Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R229_V230delFs
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CDC73

NM_024529.5:p.R229_V230delFs

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

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

37121965 (PubMed )
Supplement: 12276_2023_968_MOESM1_ESM.pdf

Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.

Chen Y et al.

Frontiers in Endocrinology, 2023

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park HS et al.

Frontiers in Endocrinology, 2022

The roles of the tumor suppressor parafibromin in cancer.

Zheng HC et al.

Frontiers in Cell and Developmental Biology, 2022

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

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

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

[CDC73 gene mutation and parafibromin expression status of parathyroid carcinoma in Chinese].

Kong J et al.

Zhonghua Yi Xue Za Zhi, 2013

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

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Pazienza V et al.

Plos One, 2013

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V et al.

Cellular Oncology (dordrecht, Netherlands), 2012

Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas.

Wang O et al.

Plos One, 2012

[Clinical and molecular genetic analyses for a sporadic parathyroid carcinoma].

Wang CY et al.

Zhonghua Yi Xue Za Zhi, 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

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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."