Associated Papers
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL
Congenital primary hyperparathyroidism.
Marini F et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
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
MEN4 and CDKN1B mutations: the latest of the MEN syndromes.
Alrezk R et al.
Endocrine-related Cancer, 2017
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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