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Quantifying prion disease penetrance using large population control cohorts
- Minikel, EV (author)
- Vallabh, SM (author)
- Lek, M (author)
- show more...
- Estrada, K (author)
- Samocha, KE (author)
- Sathirapongsasuti, JF (author)
- McLean, CY (author)
- Tung, JY (author)
- Yu, LPC (author)
- Gambetti, P (author)
- Blevins, J (author)
- Zhang, SL (author)
- Cohen, Y (author)
- Chen, W (author)
- Yamada, M (author)
- Hamaguchi, T (author)
- Sanjo, N (author)
- Mizusawa, H (author)
- Nakamura, Y (author)
- Kitamoto, T (author)
- Collins, SJ (author)
- Boyd, A (author)
- Will, RG (author)
- Knight, R (author)
- Ponto, C (author)
- Zerr, I (author)
- Kraus, TFJ (author)
- Eigenbrod, S (author)
- Giese, A (author)
- Calero, M (author)
- de Pedro-Cuesta, J (author)
- Haik, S (author)
- Laplanche, JL (author)
- Bouaziz-Amar, E (author)
- Brandel, JP (author)
- Capellari, S (author)
- Parchi, P (author)
- Poleggi, A (author)
- Ladogana, A (author)
- O'Donnell-Luria, AH (author)
- Karczewski, KJ (author)
- Marshall, JL (author)
- Boehnke, M (author)
- Laakso, M (author)
- Mohlke, KL (author)
- Chambert, K (author)
- McCarroll, S (author)
- Purcell, SM (author)
- Sklar, P (author)
- van der Lee, SJ (author)
- Rozemuller, A (author)
- Jansen, C (author)
- Hofman, A (author)
- Kraaij, R (author)
- van Rooij, JGJ (author)
- Ikram, MA (author)
- Uitterlinden, AG (author)
- van Duijn, CM (author)
- Daly, MJ (author)
- MacArthur, DG (author)
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- (creator_code:org_t)
- American Association for the Advancement of Science (AAAS), 2016
- 2016
- English.
- In: Science translational medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6242 .- 1946-6234. ; 8:322, s. 322ra9-
- Journal article (peer-reviewed)
Abstract
Subject headings
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- Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Science translational medicine (Search for host publication in LIBRIS)
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- By the author/editor
- Minikel, EV
- Vallabh, SM
- Lek, M
- Estrada, K
- Samocha, KE
- Sathirapongsasut ...
- show more...
- McLean, CY
- Tung, JY
- Yu, LPC
- Gambetti, P
- Blevins, J
- Zhang, SL
- Cohen, Y
- Chen, W
- Yamada, M
- Hamaguchi, T
- Sanjo, N
- Mizusawa, H
- Nakamura, Y
- Kitamoto, T
- Collins, SJ
- Boyd, A
- Will, RG
- Knight, R
- Ponto, C
- Zerr, I
- Kraus, TFJ
- Eigenbrod, S
- Giese, A
- Calero, M
- de Pedro-Cuesta, ...
- Haik, S
- Laplanche, JL
- Bouaziz-Amar, E
- Brandel, JP
- Capellari, S
- Parchi, P
- Poleggi, A
- Ladogana, A
- O'Donnell-Luria, ...
- Karczewski, KJ
- Marshall, JL
- Boehnke, M
- Laakso, M
- Mohlke, KL
- Kahler, A
- Chambert, K
- McCarroll, S
- Sullivan, PF
- Hultman, CM
- Purcell, SM
- Sklar, P
- van der Lee, SJ
- Rozemuller, A
- Jansen, C
- Hofman, A
- Kraaij, R
- van Rooij, JGJ
- Ikram, MA
- Uitterlinden, AG
- van Duijn, CM
- Daly, MJ
- MacArthur, DG
- show less...
- Articles in the publication
- Science translat ...
- By the university
- Karolinska Institutet
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