Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.A116fs
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POU3F4

NM_000307.5:p.A116fs

Associated Papers

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

Bernardinelli E et al.

Biomedicines, 2023

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

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

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

Bademci G et al.

Bmc Medical Genetics, 2015

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

Parzefall T et al.

Human Mutation, 2013

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

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."