Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.E232K
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POU4F3

NM_002700.3:p.E232K

Associated Papers

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

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 Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.

Zhang C et al.

Neural Plasticity, 2016

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

Freitas ÉL et al.

European Journal of Medical Genetics, 2014

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ et al.

Plos One, 2013

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Baek JI et al.

Orphanet Journal of Rare Diseases, 2012

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