Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.G221fs
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POU4F3

NM_002700.3:p.G221fs

Associated Papers

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.

Jo HD et al.

Biomedicines, 2022

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.

Gao X et al.

Biomed Research International, 2018

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

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.

Zhang C et al.

Neural Plasticity, 2016

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ et al.

Plos One, 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."