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Article

Prediction and interpretation of deleterious coding variants in terms of protein structural stability

2017-10-27

Abstract excerpt

<h4>ABSTRACT</h4> The classification of human genetic variants into deleterious and neutral is a challenging issue, whose complexity is rooted in the large variety of biophysical mechanisms that can be responsible for disease conditions. For non-synonymous mutations in structured proteins, one of these is the protein stability change, which can lead to functionality loss. We developed a stability-driven knowledge...

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Literature Corpus work
f1428152-8ac3-503e-bf35-f68c059f8a54
DOI
10.1101/210120
Open publication

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Prediction and interpretation of deleterious coding variants in terms of protein structural stabilityDOI 10.1101/210120
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