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Application of a 5-...
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
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Thompson, B.A. (author)
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Spurdle, A.B. (author)
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Plazzer, J.P. (author)
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show more...
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Greenblatt, M.S. (author)
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Akagi, K. (author)
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Al-Mulla, F. (author)
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Bapat, B.V. (author)
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Bernstein, I.T. (author)
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Capellá, G.M. (author)
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Den Dunnen, J.T. (author)
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Du Sart, D. (author)
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Fabre, A.J. (author)
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Farrell, M.P. (author)
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Farrington, S.M. (author)
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Frayling, I.M. (author)
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Frébourg, T.H. (author)
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Goldgar, D.E.J. (author)
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Cummings, C. (author)
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Holinski-Feder, E. (author)
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Kohonen-Corish, M.R.J. (author)
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- Robinson, K.L. (author)
- Karolinska Institutet
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Leung, S.Y. (author)
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Martins, A. (author)
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Möller, P. (author)
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Morak, M. (author)
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Nyström, M. (author)
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Peltomäki, P.T. (author)
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Pineda, M. (author)
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Qi, M. (author)
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Ramesar, R. (author)
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Rasmussen, L.J. (author)
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Royer-Pokora, B. (author)
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Scott, R.J. (author)
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Sijmons, R.H. (author)
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Tavtigian, S.V.S.V. (author)
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Tops, C.M.J. (author)
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Weber, T.K. (author)
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Wijnen, J.T.H. (author)
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Woods, M.O. (author)
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Macrae, F.A. (author)
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Genuardi, M. (author)
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Castillejo, A. (author)
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Sexton, A.C. (author)
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Chan, A.K.W. (author)
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Viel, A.G.M. (author)
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Blanco, A.M. (author)
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French, A.J. (author)
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Laner, A. (author)
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Wagner, A. (author)
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Van Den Ouweland, A.M.W. (author)
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Mensenkamp, A.R. (author)
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Payá, A. (author)
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Betz, B. (author)
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Redeker, B.J.W. (author)
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Smith, B.G. (author)
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Espenschied, C.R. (author)
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Cummings, C. (author)
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Engel, C. (author)
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Fornes, C. (author)
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Valenzuela, C. (author)
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Alenda, C. (author)
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Buchanan, D.D. (author)
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Barana, D. (author)
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Konstantinova, D.V. (author)
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Cairns, D. (author)
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Glaser, E. (author)
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Silva, F. (author)
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Lalloo, F.I. (author)
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Crucianelli, F. (author)
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Hogervorst, F.B.L. (author)
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Casey, G.R. (author)
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Tomlinson, I.P.M. (author)
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Blanco, I.B.S.I. (author)
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Villar, I.L. (author)
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García-Planells, J. (author)
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Bigler, J. (author)
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Shia, J. (author)
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Martínez-López, J.J. (author)
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Gille, J.J.P. (author)
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Hopper, J.L. (author)
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Potter, J.D. (author)
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Soto, J.L. (author)
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Kantelinen, J. (author)
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Ellis, K. (author)
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Mann, K. (author)
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Varesco, L. (author)
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Zhang, L. (author)
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Marchand, L.L. (author)
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Marafie, M.J. (author)
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- Nordling, Margareta, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics
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Tibiletti, M.G. (author)
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Kahan, M.A. (author)
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Ligtenberg, M.J.L. (author)
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Clendenning, M. (author)
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Jenkins, M.A. (author)
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- Dominguez, Mev (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Digweed, M. (author)
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Kloor, M. (author)
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Hitchins, M.P. (author)
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Myers, M. (author)
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Aronson, M.D. (author)
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Valentin, M.D. (author)
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Kutsche, M. (author)
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Parsons, M.T. (author)
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Walsh, M.D. (author)
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Kansikas, M. (author)
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Zahary, M.N. (author)
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Pedroni, M. (author)
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Heider, N. (author)
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Poplawski, N.K. (author)
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Rahner, N. (author)
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Lindor, N.M. (author)
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Sala, P. (author)
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Nan, P. (author)
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Propping, P. (author)
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Newcomb, P. (author)
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Sarin, R. (author)
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Haile, R.W.C. (author)
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Hofstra, R.M.W. (author)
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Ward, R.L. (author)
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Tricarico, R. (author)
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Bacares, R. (author)
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Young, S. (author)
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Chialina, S.G. (author)
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Kovalenko, S.P. (author)
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Gunawardena, S.R. (author)
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Moreno, S. (author)
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Ho, S. (author)
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Yuen, S.T. (author)
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Thibodeau, S.N. (author)
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Gallinger, S.S. (author)
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Burnett, T.S. (author)
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Teitsch, T. (author)
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Chan, T.L. (author)
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Smyrk, T.C. (author)
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Cranston, T. (author)
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Psofaki, V. (author)
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Steinke-Lange, V. (author)
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Barberá, V.M. (author)
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(creator_code:org_t)
- 2013-12-22
- 2014
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
- Related links:
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https://europepmc.or...
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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Abstract
Subject headings
Close
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Thompson, B.A.
-
Spurdle, A.B.
-
Plazzer, J.P.
-
Greenblatt, M.S.
-
Akagi, K.
-
Al-Mulla, F.
-
show more...
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Bapat, B.V.
-
Bernstein, I.T.
-
Capellá, G.M.
-
Den Dunnen, J.T.
-
Du Sart, D.
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Fabre, A.J.
-
Farrell, M.P.
-
Farrington, S.M.
-
Frayling, I.M.
-
Frébourg, T.H.
-
Goldgar, D.E.J.
-
Cummings, C.
-
Holinski-Feder, ...
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Kohonen-Corish, ...
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Robinson, K.L.
-
Leung, S.Y.
-
Martins, A.
-
Möller, P.
-
Morak, M.
-
Nyström, M.
-
Peltomäki, P.T.
-
Pineda, M.
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Qi, M.
-
Ramesar, R.
-
Rasmussen, L.J.
-
Royer-Pokora, B.
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Scott, R.J.
-
Sijmons, R.H.
-
Tavtigian, S.V.S ...
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Tops, C.M.J.
-
Weber, T.K.
-
Wijnen, J.T.H.
-
Woods, M.O.
-
Macrae, F.A.
-
Genuardi, M.
-
Castillejo, A.
-
Sexton, A.C.
-
Chan, A.K.W.
-
Viel, A.G.M.
-
Blanco, A.M.
-
French, A.J.
-
Laner, A.
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Wagner, A.
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Van Den Ouweland ...
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Mensenkamp, A.R.
-
Payá, A.
-
Betz, B.
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Redeker, B.J.W.
-
Smith, B.G.
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Espenschied, C.R ...
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Engel, C.
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Fornes, C.
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Valenzuela, C.
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Alenda, C.
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Buchanan, D.D.
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Barana, D.
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Konstantinova, D ...
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Cairns, D.
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Glaser, E.
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Silva, F.
-
Lalloo, F.I.
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Crucianelli, F.
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Hogervorst, F.B. ...
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Casey, G.R.
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Tomlinson, I.P.M ...
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Blanco, I.B.S.I.
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Villar, I.L.
-
García-Planells, ...
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Bigler, J.
-
Shia, J.
-
Martínez-López, ...
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Gille, J.J.P.
-
Hopper, J.L.
-
Potter, J.D.
-
Soto, J.L.
-
Kantelinen, J.
-
Ellis, K.
-
Mann, K.
-
Varesco, L.
-
Zhang, L.
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Marchand, L.L.
-
Marafie, M.J.
-
Nordling, Margar ...
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Tibiletti, M.G.
-
Kahan, M.A.
-
Ligtenberg, M.J. ...
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Clendenning, M.
-
Jenkins, M.A.
-
Dominguez, Mev
-
Digweed, M.
-
Kloor, M.
-
Hitchins, M.P.
-
Myers, M.
-
Aronson, M.D.
-
Valentin, M.D.
-
Kutsche, M.
-
Parsons, M.T.
-
Walsh, M.D.
-
Kansikas, M.
-
Zahary, M.N.
-
Pedroni, M.
-
Heider, N.
-
Poplawski, N.K.
-
Rahner, N.
-
Lindor, N.M.
-
Sala, P.
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Nan, P.
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Propping, P.
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Newcomb, P.
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Sarin, R.
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Haile, R.W.C.
-
Hofstra, R.M.W.
-
Ward, R.L.
-
Tricarico, R.
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Bacares, R.
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Young, S.
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Chialina, S.G.
-
Kovalenko, S.P.
-
Gunawardena, S.R ...
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Moreno, S.
-
Ho, S.
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Yuen, S.T.
-
Thibodeau, S.N.
-
Gallinger, S.S.
-
Burnett, T.S.
-
Teitsch, T.
-
Chan, T.L.
-
Smyrk, T.C.
-
Cranston, T.
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Psofaki, V.
-
Steinke-Lange, V ...
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Barberá, V.M.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Nature Genetics
- By the university
-
University of Gothenburg
-
Lund University
-
Karolinska Institutet