Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R234*
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CDC73

NM_024529.5:p.R234*

Associated Papers

48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.

Chen Y et al.

Journal of Endocrinological Investigation, 2025

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

Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy.

Friedrich RE et al.

Oral and Maxillofacial Surgery, 2024

Combination approach for CDC73-related parathyroid carcinoma in an adolescent female patient: a case report and literature review.

Kim E et al.

Therapeutic Advances in Medical Oncology, 2024

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

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

Hu Y et al.

International Journal of Cancer, 2020

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

A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors.

Katigbak A et al.

Scientific Reports, 2016

27982060 (PubMed )
Supplement: srep38968-s2.xls › Sheet1

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

Somatic HRPT2 Mutation (Arg234X) of Parathyroid Carcinoma Associated with Slipped Capital Femoral Epiphysis: A First Case Report.

Niramitmahapanya S et al.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2016

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 mutational status and loss of parafibromin in the outcome of parathyroid cancer.

Cetani F et al.

Endocrine Connections, 2013

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.

Frank-Raue K et al.

European Journal of Endocrinology, 2011

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

The effect of disease-associated HRPT2 mutations on splicing.

Hahn MA et al.

The Journal of Endocrinology, 2009

HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.

Cetani F et al.

Expert Review of Endocrinology & Metabolism, 2008

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

[Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma].

Raue F et al.

Deutsche Medizinische Wochenschrift (1946), 2007

Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?

Cetani F et al.

European Journal of Endocrinology, 2007

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ et al.

Clinical Endocrinology, 2006

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.

Cetani F et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Shattuck TM et al.

The New England Journal of Medicine, 2003

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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."