Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.M1I
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CDC73

NM_024529.5:p.M1I

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

Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.

Tora R et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

A Novel CDC73 Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney.

Danda VSR et al.

Jcem Case Reports, 2023

A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.

Yang D et al.

Diagnostic Pathology, 2022

Familial Hyperparathyroidism.

Blau JE et al.

Frontiers in Endocrinology, 2021

Clinical and Molecular Genetics of Primary Hyperparathyroidism.

Simonds WF

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors.

Vocke CD et al.

Urology, 2019

Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.

Sun W et al.

Scientific Reports, 2017

29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf

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

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

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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."