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

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

Abstract 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-segr...

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Autores principales: Yin-Hung Lin, Yi-Hsin Lin, Ying-Chang Lu, Tien-Chen Liu, Chien-Yu Chen, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Chi Wu
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/fd3b4a931d784852b7b020b70eade438
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