Carrier re-sequencing reveals rare but benign variants in recessive deafness genes

For recessive Mendelian disorders, determining the pathogenicity of rare, non-synonymous variants in known causative genes can be challenging without expanded pedigrees and/or functional analysis. In this study, we proposed to establish a database of rare but benign variants in recessive deafness ge...

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Detalles Bibliográficos
Autores principales: He, Longxia, Pang, Xiuhong, Chen, Penghui, Wang, Xiaowen, Yang, Tao, Wu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595904/
https://www.ncbi.nlm.nih.gov/pubmed/28900111
http://dx.doi.org/10.1038/s41598-017-10099-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595904/
https://www.ncbi.nlm.nih.gov/pubmed/28900111
http://dx.doi.org/10.1038/s41598-017-10099-2

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