Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.E24*
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CDC73

NM_024529.5:p.E24*

Associated Papers

A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.

Li Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.

Mao X et al.

International Journal of Genomics, 2021

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

Marx SJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

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 germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature.

Serrano-Gonzalez M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer.

Cetani F et al.

Endocrine Connections, 2013

Genome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors.

Sulaiman L et al.

Plos One, 2012

Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.

Juhlin CC et al.

Virchows Archiv : an International Journal of Pathology, 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

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

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

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."