Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.R183Q
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PJVK

NM_001042702.5:p.R183Q

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

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

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Wang J et al.

Plos One, 2011

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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."