Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Authors :: Lemmers, Richard J. L. F.
Vliet, P.J. van der
Balog, J.
Goeman, J.J.
Arindrarto, W.
Krom, Y.D.
Mul, K.
Engelen, B.G.M. van
Tawil, R.
Maarel, S.M. van der
Lemmers, Richard J. L. F.
Vliet, P.J. van der
Balog, J.
Goeman, J.J.
Arindrarto, W.
Krom, Y.D.
Mul, K.
Engelen, B.G.M. van
Tawil, R.
Maarel, S.M. van der
Source :: European Journal of Human Genetics; 94; 106; 1018-4813; 1; vol. 26; ~European Journal of Human Genetics~94~106~~~1018-4813~1~26~~
Publication Year :: 2018
Abstract: Contains fulltext : 183886.pdf (Publisher’s version ) (Open Access)

Database :: OAIster
Journal :: European Journal of Human Genetics; 94; 106; 1018-4813; 1; vol. 26; ~European Journal of Human Genetics~94~106~~~1018-4813~1~26~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1285259766
Document Type :: Electronic Resource

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