Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.L107V
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CDKN2C

NM_078626.3:p.L107V

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

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Mazarico-Altisent I et al.

Frontiers in Endocrinology, 2023

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