Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Hunter, Jesse M; Ahearn, Mary Ellen; Balak, Christopher D; Liang, Winnie S; Kurdoglu, Ahmet; Corneveaux, Jason J; Russell, Megan; Huentelman, Matthew J; Craig, David W; Carpten, John; Coons, Stephen W; DeMello, Daphne E; Hall, Judith G; Bernes, Saunder M; Baumbach-Reardon, Lisa.
Mol Genet Genomic Med; 3(4): 283-301, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26247046