Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.E236D
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POU3F4

NM_000307.5:p.E236D

Associated Papers

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

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

Su Y et al.

Bmc Medical Genetics, 2018

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

Phenotype and genotype in females with POU3F4 mutations.

Marlin S et al.

Clinical Genetics, 2009

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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."