Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.R265G
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PJVK

NM_001042702.5:p.R265G

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

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf

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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