Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.I285fs
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POU3F4

NM_000307.5:p.I285fs

Associated Papers

Impact of POU3F4 mutation on cochlear development and auditory function.

Dang J et al.

Cell Communication and Signaling : Ccs, 2025

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

Bernardinelli E et al.

Biomedicines, 2023

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Bernardinelli E et al.

Frontiers in Molecular Neuroscience, 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

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

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

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T et al.

Human Mutation, 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."