Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Subject "Databases, Nucleic Acid"
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Article
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
(2014)X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...