Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.L201_G202delFs
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POU4F3

NM_002700.3:p.L201_G202delFs

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

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.

Zhang C et al.

Neural Plasticity, 2016

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.

He L et al.

Neural Plasticity, 2016

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

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

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T et al.

Orphanet Journal of Rare Diseases, 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."