Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.Q229R
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POU3F4

NM_000307.5:p.Q229R

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.

Tekin AM et al.

Genes, 2021

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.

Mei X et al.

Neural Plasticity, 2021

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

Su Y et al.

Bmc Medical Genetics, 2018

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.

Du W et al.

Chinese Medical Journal, 2017

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.

Choi BY et al.

The Laryngoscope, 2016

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Moteki H et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.

Choi JW et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.

Choi BY et al.

Human Mutation, 2013

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Choi BY et al.

Plos One, 2013

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