Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.W32*
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CDC73

NM_024529.5:p.W32*

Associated Papers

Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.

Elena C et al.

Case Reports in Endocrinology, 2025

Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis.

Pardi E et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

The genomic profile of parathyroid carcinoma based on whole-genome sequencing.

Hu Y et al.

International Journal of Cancer, 2020

Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Clarke CN et al.

Journal of the Endocrine Society, 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

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

Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.

Sarquis MS et al.

Surgery, 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."