Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Mazarico-Altisent I et al.
Journal of Endocrinological Investigation, 2023
36334246 (PubMed )
Supplement: 40618_2022_1948_MOESM1_ESM.xlsx › Supplementary_material
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG
MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.
Georgitsi M
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.
Agarwal SK et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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