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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants,...
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Publicado no: | Am J Hum Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5011044/ https://ncbi.nlm.nih.gov/pubmed/27545680 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.029 |
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