Article

<i>In silico</i> analysis of <i>CDC73</i> gene revealing 11 novel SNPs associated with Jaw Tumor Syndrome

2019-08-08

Abstract excerpt

<h4>Back ground</h4> hyperparathyroidism-jaw tumor (HPT-JT) is an autosomal dominant disorder with variable expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic testing for predisposing CDC73 (HRPT2) mutations has been an important clinical advance, aimed at early detection and/or treatment to prevent advanced disease. The aim of this study is to assess the effect of SNPs on CDC73 struct...

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Literature Corpus work: 21293905-e160-5a54-8d64-65218c1adcc6
DOI: 10.1101/729764

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