Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.E29delFs
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CDC73

NM_024529.5:p.E29delFs

Associated Papers

Primary exploration of cell-free DNA in the plasma of patients with parathyroid neoplasms using next-generation sequencing.

Zheng Q et al.

Cancer Cell International, 2025

40075389 (PubMed )
Supplement: 12935_2025_3699_MOESM2_ESM.xlsx › Sheet1

Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.

Sharma A et al.

Calcified Tissue International, 2022

Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.

Mao X et al.

International Journal of Genomics, 2021

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

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

Cardoso L et al.

Human Mutation, 2017

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

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK et al.

Familial Cancer, 2011

Hyperparathyroidism-jaw tumor syndrome: a case report.

Rekik N et al.

Annales D'endocrinologie, 2010

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-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?

Silveira LG et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.

Moon SD et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."