Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.M1insFs
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CDC73

NM_024529.5:p.M1insFs

Associated Papers

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Mariathasan S et al.

Clinical Endocrinology, 2020

Genotype of CDC73 germline mutation determines risk of parathyroid cancer.

Li Y et al.

Endocrine-related Cancer, 2020

Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.

Iacobone M et al.

World Journal of Surgery, 2020

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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."