Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R229fs
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CDC73

NM_024529.5:p.R229fs

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

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

A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome.

Gu Y et al.

Frontiers in Endocrinology, 2024

Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma.

Jo SY et al.

Experimental & Molecular Medicine, 2023

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

van der Tuin K et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Targeted Next-Generation Sequencing of MEN 1, RET, CDC 73, and CDKNIB Genes in Familial Primary Hyperparathyroidism: A Study from Northern India.

Qadir A et al.

Indian Journal of Endocrinology and Metabolism, 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."