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A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and n...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Wang, Li, Feng, Yong, Yan, Denise, Qin, Litao, Grati, M’hamed, Mittal, Rahul, Li, Tao, Sundhari, Abhiraami Kannan, Liu, Yalan, Chapagain, Prem, Blanton, Susan H., Liao, Shixiu, Liu, Xuezhong
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6560636/
https://ncbi.nlm.nih.gov/pubmed/29860631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1895-y
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