Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.V330delFs
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PJVK

NM_001042702.5:p.V330delFs

Associated Papers

Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.

Salame M et al.

Journal of Applied Genetics, 2025

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

Domínguez-Ruiz M et al.

Genes, 2022

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Salime S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.

Zhang QJ et al.

Acta Oto-laryngologica, 2015

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Borck G et al.

Clinical Genetics, 2012

DFNA5, a gene involved in hearing loss and cancer: a review.

de Beeck KO et al.

The Annals of Otology, Rhinology, and Laryngology, 2012

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.

Hashemzadeh Chaleshtori M et al.

Clinical Genetics, 2007

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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."