Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.W43*
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CDC73

NM_024529.5:p.W43*

Associated Papers

Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma.

Jo SY et al.

Experimental & Molecular Medicine, 2023

Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.

Mao X et al.

International Journal of Genomics, 2021

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

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

Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.

Sun W et al.

Scientific Reports, 2017

29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

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

Sulaiman L et al.

Plos One, 2012

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

Loss of parafibromin expression in a subset of parathyroid adenomas.

Juhlin C et al.

Endocrine-related Cancer, 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

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Carpten JD et al.

Nature Genetics, 2002

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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."