Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R77P
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CDC73

NM_024529.5:p.R77P

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

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

Masi G et al.

Plos One, 2014

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Pazienza V et al.

Plos One, 2013

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V et al.

Cellular Oncology (dordrecht, Netherlands), 2012

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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."