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
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_MOESM4_ESM.pdf
Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.
Moreno E et al.
Diagnostic Pathology, 2020
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.
Bruno W et al.
Oncotarget, 2018
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.
Ghiorzo P et al.
Experimental Dermatology, 2012
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