Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.A336fs
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POU4F3

NM_002700.3:p.A336fs

Associated Papers

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

Lin YH et al.

Scientific Reports, 2017

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."