Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.S162N
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PJVK

NM_001042702.5:p.S162N

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

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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."