Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.F213delFs
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CDC73

NM_024529.5:p.F213delFs

Associated Papers

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitination.

Hahn MA et al.

Human Molecular Genetics, 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

The effect of disease-associated HRPT2 mutations on splicing.

Hahn MA et al.

The Journal of Endocrinology, 2009

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

Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin.

Hahn MA et al.

Oncogene, 2005

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

Bradley KJ et al.

Journal of Internal Medicine, 2005

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

Carpten JD et al.

Nature Genetics, 2002

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