Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.R296*
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PJVK

NM_001042702.5:p.R296*

Associated Papers

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

Alerasool M et al.

Clinical Genetics, 2024

Next-generation sequencing for genetic testing of hearing loss populations.

Wang L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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
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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."