Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.E48*
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CDC73

NM_024529.5:p.E48*

Associated Papers

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.

Aytaç Kaplan EH et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK et al.

Familial Cancer, 2011

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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."