Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R91*
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CDC73

NM_024529.5:p.R91*

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

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

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

Hu Y et al.

International Journal of Cancer, 2020

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.

Mamedova E et al.

Endocrine Connections, 2017

Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.

Shibata Y et al.

Endocrine Journal, 2015

[TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].

Mamedova EO et al.

Klinicheskaia Meditsina, 2015

Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.

Bricaire L et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

[CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].

Mamedova EO et al.

Terapevticheskii Arkhiv, 0

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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."