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
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM3_ESM.xlsx › Additional_germline_variants
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_MOESM4_ESM.pdf
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
Jia S et al.
Bmc Medical Genetics, 2018
29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › raw_data
[CDKN2A-mutation in a family with hereditary malignant melanoma].
Djursby M et al.
Ugeskrift for Laeger, 2014
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
20876876 (PubMed )
Supplement: supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families.
Måsbäck A et al.
Melanoma Research, 2002
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.
Borg A et al.
Journal of the National Cancer Institute, 2000
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