Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.L63P
Back to variants list

CDC73

NM_024529.5:p.L63P

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

Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Khairi S et al.

Hormones & 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

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

Muscarella LA et al.

Oncotarget, 2018

29755684 (PubMed )
Supplement: oncotarget-09-20721-s002.xlsx › Foglio1

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

Cardoso L et al.

Human Mutation, 2017

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Newey PJ et al.

Human Mutation, 2010

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

Iacobone M et al.

Langenbeck's Archives of Surgery, 2009

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

Masi G et al.

Endocrine-related Cancer, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."