A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous with more than 35 genes identified to date. Using a massively parallel sequencing panel targeting 159 deafness genes, we identified a novel missense variant of POU4F3 (c.982A>G, p.Lys328Glu) which co-segregated wi...

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Publicat a:Sci Rep
Autors principals: Lin, Yin-Hung, Lin, Yi-Hsin, Lu, Ying-Chang, Liu, Tien-Chen, Chen, Chien-Yu, Hsu, Chuan-Jen, Chen, Pei-Lung, Wu, Chen-Chi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548901/
https://ncbi.nlm.nih.gov/pubmed/28790396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-08236-y
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