Search: (WFRF:(Ehrencrona Hans)) pers:(Benitez Javier) pers:(Sinilnikova Olga M.) >
FANCM c.5791C>T non...
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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Peterlongo, Paolo (author)
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Catucci, Irene (author)
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Colombo, Mara (author)
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show more...
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Caleca, Laura (author)
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Mucaki, Eliseos (author)
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Bogliolo, Massimo (author)
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Marin, Maria (author)
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Damiola, Francesca (author)
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Bernard, Loris (author)
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Pensotti, Valeria (author)
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Volorio, Sara (author)
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Dall'Olio, Valentina (author)
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Meindl, Alfons (author)
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Bartram, Claus (author)
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Sutter, Christian (author)
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Surowy, Harald (author)
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Sornin, Valérie (author)
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Dondon, Marie-Gabrielle (author)
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Eon-Marchais, Séverine (author)
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Stoppa-Lyonnet, Dominique (author)
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Andrieu, Nadine (author)
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Sinilnikova, Olga M (author)
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Mitchell, Gillian (author)
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James, Paul A (author)
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Thompson, Ella (author)
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Marchetti, Marina (author)
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Verzeroli, Cristina (author)
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Tartari, Carmen (author)
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Capone, Gabriele Lorenzo (author)
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Putignano, Anna Laura (author)
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Genuardi, Maurizio (author)
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Medici, Veronica (author)
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Marchi, Isabella (author)
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Federico, Massimo (author)
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Tognazzo, Silvia (author)
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Matricardi, Laura (author)
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Agata, Simona (author)
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Dolcetti, Riccardo (author)
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Puppa, Lara Della (author)
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Cini, Giulia (author)
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Gismondi, Viviana (author)
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Viassolo, Valeria (author)
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Perfumo, Chiara (author)
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Mencarelli, Maria Antonietta (author)
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Baldassarri, Margherita (author)
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Peissel, Bernard (author)
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Roversi, Gaia (author)
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Silvestri, Valentina (author)
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Rizzolo, Piera (author)
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Spina, Francesca (author)
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Vivanet, Caterina (author)
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Tibiletti, Maria Grazia (author)
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Caligo, Maria Adelaide (author)
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Gambino, Gaetana (author)
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Tommasi, Stefania (author)
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Pilato, Brunella (author)
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Tondini, Carlo (author)
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Corna, Chiara (author)
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Bonanni, Bernardo (author)
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Barile, Monica (author)
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Osorio, Ana (author)
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Benitez, Javier (author)
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Balestrino, Luisa (author)
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Ottini, Laura (author)
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Manoukian, Siranoush (author)
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Pierotti, Marco A (author)
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Renieri, Alessandra (author)
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Varesco, Liliana (author)
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Couch, Fergus J (author)
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Wang, Xianshu (author)
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Devilee, Peter (author)
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Hilbers, Florentine S (author)
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van Asperen, Christi J (author)
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Viel, Alessandra (author)
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Montagna, Marco (author)
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Cortesi, Laura (author)
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Diez, Orland (author)
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Balmaña, Judith (author)
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Hauke, Jan (author)
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Schmutzler, Rita K (author)
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Papi, Laura (author)
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Pujana, Miguel Angel (author)
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Lázaro, Conxi (author)
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Falanga, Anna (author)
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Offit, Kenneth (author)
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Vijai, Joseph (author)
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Campbell, Ian (author)
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Burwinkel, Barbara (author)
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- Kvist, Anders (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
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- Ehrencrona, Hans (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Mazoyer, Sylvie (author)
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Pizzamiglio, Sara (author)
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Verderio, Paolo (author)
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Surralles, Jordi (author)
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Rogan, Peter K (author)
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Radice, Paolo (author)
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(creator_code:org_t)
- 2015-06-30
- 2015
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5345-5355
- Related links:
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://academic.oup...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
Subject headings
- 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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- art (subject category)
- ref (subject category)
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- By the author/editor
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Peterlongo, Paol ...
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Catucci, Irene
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Colombo, Mara
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Caleca, Laura
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Mucaki, Eliseos
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Bogliolo, Massim ...
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show more...
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Marin, Maria
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Damiola, Frances ...
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Bernard, Loris
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Pensotti, Valeri ...
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Volorio, Sara
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Dall'Olio, Valen ...
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Meindl, Alfons
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Bartram, Claus
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Sutter, Christia ...
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Surowy, Harald
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Sornin, Valérie
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Dondon, Marie-Ga ...
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Eon-Marchais, Sé ...
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Stoppa-Lyonnet, ...
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Andrieu, Nadine
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Sinilnikova, Olg ...
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Mitchell, Gillia ...
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James, Paul A
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Thompson, Ella
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Marchetti, Marin ...
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Verzeroli, Crist ...
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Tartari, Carmen
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Capone, Gabriele ...
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Putignano, Anna ...
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Genuardi, Mauriz ...
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Medici, Veronica
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Marchi, Isabella
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Federico, Massim ...
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Tognazzo, Silvia
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Matricardi, Laur ...
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Agata, Simona
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Dolcetti, Riccar ...
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Puppa, Lara Dell ...
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Cini, Giulia
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Gismondi, Vivian ...
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Viassolo, Valeri ...
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Perfumo, Chiara
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Mencarelli, Mari ...
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Baldassarri, Mar ...
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Peissel, Bernard
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Roversi, Gaia
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Silvestri, Valen ...
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Rizzolo, Piera
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Spina, Francesca
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Vivanet, Caterin ...
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Tibiletti, Maria ...
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Caligo, Maria Ad ...
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Gambino, Gaetana
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Tommasi, Stefani ...
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Pilato, Brunella
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Tondini, Carlo
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Corna, Chiara
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Bonanni, Bernard ...
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Barile, Monica
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Osorio, Ana
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Benitez, Javier
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Balestrino, Luis ...
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Ottini, Laura
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Manoukian, Siran ...
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Pierotti, Marco ...
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Renieri, Alessan ...
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Varesco, Liliana
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Couch, Fergus J
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Wang, Xianshu
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Devilee, Peter
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Hilbers, Florent ...
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van Asperen, Chr ...
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Viel, Alessandra
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Montagna, Marco
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Cortesi, Laura
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Diez, Orland
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Balmaña, Judith
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Hauke, Jan
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Schmutzler, Rita ...
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Papi, Laura
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Pujana, Miguel A ...
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Lázaro, Conxi
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Falanga, Anna
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Offit, Kenneth
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Vijai, Joseph
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Campbell, Ian
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Burwinkel, Barba ...
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Kvist, Anders
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Ehrencrona, Hans
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Mazoyer, Sylvie
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Pizzamiglio, Sar ...
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Verderio, Paolo
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Surralles, Jordi
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Rogan, Peter K
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Radice, Paolo
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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 Clinical Medicin ...
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and Cancer and Oncol ...
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Human Molecular ...
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Lund University