Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2B
Variant:p.L64R
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CDKN2B

NM_004936.4:p.L64R

Associated Papers

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

Genetic profile of naïve untreated primary cutaneous melanomas with a negative sentinel lymph node.

Yang K et al.

Clinical and Experimental Dermatology, 2020

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Jafri M et al.

Cancer Discovery, 2015

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

Familial isolated pituitary adenoma: evidence for genetic heterogeneity.

Toledo RA et al.

Frontiers of Hormone Research, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."