Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.S174_E175delFs
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CDC73

NM_024529.5:p.S174_E175delFs

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

Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors.

Tavanti GS et al.

International Journal of Molecular Sciences, 2021

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V et al.

Cellular Oncology (dordrecht, Netherlands), 2012

Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.

Cavaco BM et al.

Endocrine Pathology, 2011

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

Masi G et al.

Endocrine-related Cancer, 2008

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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."