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-supp10.xlsx › Appendix_1-table_10
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
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Harland M et al.
Hereditary Cancer in Clinical Practice, 2014
25780468 (PubMed )
Supplement: 13053_2014_472_MOESM2_ESM.xlsx › Sheet1
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.
Gray C et al.
Journal of Drugs in Dermatology : Jdd, 2011
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
Harel A et al.
The Journal of Investigative Dermatology, 2006
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