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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

The contribution of genetic variants to sporadic amyotrophic lateral sclerosis (ALS) remains largely unknown. Either recessive or de novo variants could result in an apparently sporadic occurrence of ALS. In an attempt to find such variants we sequenced the exomes of 44 ALS-unaffected-parents trios....

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4360641/
https://ncbi.nlm.nih.gov/pubmed/25773295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep09124
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