Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.A336delFs
Back to variants list

POU4F3

NM_002700.3:p.A336delFs

Associated Papers

Aldh inhibitor restores auditory function in a mouse model of human deafness.

Zhu GJ et al.

Plos Genetics, 2020

32970669 (PubMed )
Supplement: pgen.1009040.s011.docx

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

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

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

A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.

Chai Y et al.

International Journal of Pediatric Otorhinolaryngology, 2014

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2013

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."