Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.I26delFs
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CDC73

NM_024529.5:p.I26delFs

Associated Papers

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

Frank-Raue K et al.

European Journal of Endocrinology, 2011

CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.

Hahn MA et al.

Endocrine-related Cancer, 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

Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma.

Howell VM et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias.

Gill AJ et al.

The American Journal of Surgical Pathology, 2006

Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.

Crépin M et al.

Journal of Molecular Endocrinology, 2006

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

Bradley KJ et al.

Journal of Internal Medicine, 2005

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.

Teh BT et al.

Human Genetics, 2004

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.

Howell VM et al.

Journal of Medical Genetics, 2003

Targeted Next-Generation Sequencing of MEN 1, RET, CDC 73, and CDKNIB Genes in Familial Primary Hyperparathyroidism: A Study from Northern India.

Qadir A et al.

Indian Journal of Endocrinology and Metabolism, 0

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