Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.P303S
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POU3F4

NM_000307.5:p.P303S

Associated Papers

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.

Petrova N et al.

Peerj, 2023

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.

Mei X et al.

Neural Plasticity, 2021

[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene].

Petrina NE et al.

Vestnik Otorinolaringologii, 2020

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

Su Y et al.

Bmc Medical Genetics, 2018

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.

Du W et al.

Chinese Medical Journal, 2017

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.

Huang BQ et al.

Journal of Otology, 2015

Nonsyndromic X-linked hearing loss.

Song MH et al.

Frontiers in Bioscience (elite Edition), 2012

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.

Li J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2010

The ins and outs of X-linked deafness type 3.

Cremers FP et al.

Advances in Oto-rhino-laryngology, 2000

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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."