Article

Using structural analysis <i>in silico</i> to assess the impact of missense variants in MEN1

2019-06-06

Abstract excerpt

<h4>ABSTRACT</h4> Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variation, the interpretation of novel missense variants can remain challenging, particularly for clinical or genetic testing laboratories where functional analysis is often unfeasible. Previous studies have shown that thermodynamic analysis of protein structure in silico can discriminate betw...

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Literature Corpus work: 79215179-a28a-5eb1-bb52-f09efc1e9e3a
DOI: 10.1101/661512

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