Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.I13delFs
Back to variants list

CDC73

NM_024529.5:p.I13delFs

Associated Papers

Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.

Simonds WF et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

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

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

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-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?

Silveira LG et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

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

A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone.

Yamashita Y et al.

International Journal of Oral and Maxillofacial Surgery, 2007

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

Mizusawa N et al.

Clinical Endocrinology, 2006

[Familial hyperparathyroidism].

Suzuki S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

Bradley KJ et al.

Journal of Internal Medicine, 2005

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

Shattuck TM et al.

The New England Journal of Medicine, 2003

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

Carpten JD et al.

Nature Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."