Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.R326*
Back to variants list

POU4F3

NM_002700.3:p.R326*

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Genetic background in late-onset sensorineural hearing loss patients.

Uehara N et al.

Journal of Human Genetics, 2022

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.

Bai X et al.

Journal of Cellular and Molecular Medicine, 2020

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Cui TY et al.

Neural Plasticity, 2020

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

Gao X et al.

Biomed Research International, 2018

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

Kitano T et al.

Plos One, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."