Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.S228L
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POU3F4

NM_000307.5:p.S228L

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

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Bernardinelli E et al.

Biomedicines, 2023

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.

Tekin AM et al.

Genes, 2021

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

Mei X et al.

Neural Plasticity, 2021

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

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Moteki H et al.

The Annals of Otology, Rhinology, and Laryngology, 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

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Vore AP et al.

Archives of Otolaryngology--head & Neck Surgery, 2005

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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."