Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.I18delFs
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CDC73

NM_024529.5:p.I18delFs

Associated Papers

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

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

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

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."