In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome
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 p...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2020-04-01
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Series: | The EuroBiotech Journal |
Subjects: | |
Online Access: | https://doi.org/10.2478/ebtj-2020-0008 |