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Unmasking of novel mutations within <i>XK</i> gene that could be used as Diagnostic Markers to Predict McLeod syndrome: Using in silico analysis

2019-02-05

Abstract excerpt

<h4>Background</h4> McLeod neuroacanthocytosis syndrome is a rare X-linked recessive multisystem disorder affecting the peripheral and central nervous systems, red blood cells, and internal organs. <h4>Methods</h4> We carried out in silico analysis of structural effect of each SNP using different bioinformatics tools to predict substitution influence on protein structural and functional level. <h4>Result</h4> 2...

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Literature Corpus work
9b02d0c1-b63a-5ad6-9a86-06f3baba307d
DOI
10.1101/540153
Open publication

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Unmasking of novel mutations within <i>XK</i> gene that could be used as Diagnostic Markers to Predict McLeod syndrome: Using in silico analysisDOI 10.1101/540153
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