Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L317fs
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POU3F4

NM_000307.5:p.L317fs

Associated Papers

Impact of POU3F4 mutation on cochlear development and auditory function.

Dang J et al.

Cell Communication and Signaling : Ccs, 2025

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Bernardinelli E et al.

Biomedicines, 2023

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

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.

Jang JH et al.

Genetic Testing and Molecular Biomarkers, 2019

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

Su Y et al.

Bmc Medical Genetics, 2018

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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."