Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L91Q
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CDKN2A

NM_000077.5:p.L91Q

Associated Papers

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-supp11.xlsx › Appendix_1-table_11

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-11.pdf

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM3_ESM.pdf

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

Hu C et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2016

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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."