Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.S59F
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CDC73

NM_024529.5:p.S59F

Associated Papers

[Primary hyperparathyroidism in children].

Benina AR et al.

Problemy Endokrinologii, 2023

Hypercalcemic crisis caused by primary hyperparathyroidism in a 11-year-old boy: a rare case report and review of the literature.

Hayashi S et al.

Gland Surgery, 2022

Genotype of CDC73 germline mutation determines risk of parathyroid cancer.

Li Y et al.

Endocrine-related Cancer, 2020

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

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

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

Cardoso L et al.

Human Mutation, 2017

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

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

HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.

Cetani F et al.

Expert Review of Endocrinology & Metabolism, 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."