Associated Papers
Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.
Fan X et al.
Genome Biology, 2025
41163193 (PubMed )
Supplement: 13059_2025_3843_MOESM1_ESM.xlsx › Table_S19
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-supp2.xlsx › Appendix_1-table_2
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-2.pdf
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report.
Kiyozumi Y et al.
Hereditary Cancer in Clinical Practice, 2024
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Lin J et al.
Frontiers in Immunology, 2022
36505399 (PubMed )
Supplement: Table_2.xlsx › vars
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
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S1-TCGA-data.xlsx › _a__PAAD
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.
Carraro M et al.
Human Mutation, 2017
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
Pejaver V et al.
Human Mutation, 2017
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC et al.
Human Mutation, 2014
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Bisio A et al.
Human Molecular Genetics, 2010
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
Gensini F et al.
Melanoma Research, 2007
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