Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.K202E
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POU3F4

NM_000307.5:p.K202E

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

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

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.

Han JJ et al.

Scientific Reports, 2019

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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."