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

Por 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
Publicado no Mol Genet Genomic Med (2015)