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

Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four uni...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Ltd 2015
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521965/ https://www.ncbi.nlm.nih.gov/pubmed/26247046 http://dx.doi.org/10.1002/mgg3.142

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