Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.I60N
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CDC73

NM_024529.5:p.I60N

Associated Papers

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

The roles of the tumor suppressor parafibromin in cancer.

Zheng HC et al.

Frontiers in Cell and Developmental Biology, 2022

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

The in vitro and vivo effects of nuclear and cytosolic parafibromin expression on the aggressive phenotypes of colorectal cancer cells: a search of potential gene therapy target.

Zheng HC et al.

Oncotarget, 2017

Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.

Masi G et al.

Plos One, 2014

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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."