Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.I285delFs
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POU3F4

NM_000307.5:p.I285delFs

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

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

Mei X et al.

Neural Plasticity, 2021

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.

Jang JH et al.

Genetic Testing and Molecular Biomarkers, 2019

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

Du W et al.

Chinese Medical Journal, 2017

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T et al.

Human Mutation, 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."