Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.A116delFs
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POU3F4

NM_000307.5:p.A116delFs

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

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

Su Y et al.

Bmc Medical Genetics, 2018

Frequency and specific characteristics of the incomplete partition type III anomaly in children.

Kanno A et al.

The Laryngoscope, 2017

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Pollak A et al.

Plos One, 2016

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

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

Bademci G et al.

Bmc Medical Genetics, 2015

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee HK et al.

Physiological Genomics, 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."