Article

Identification of pathogenic missense mutations using protein stability predictors

2020-06-12

Abstract excerpt

Attempts at using protein structures to identify disease-causing mutations have been dominated by the idea that most pathogenic mutations are disruptive at a structural level. Therefore, computational stability predictors, which assess whether a mutation is likely to be stabilising or destabilising to protein structure, have been commonly used when evaluating new candidate disease variants, despite not having been...

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Literature Corpus work: 1351fc6a-1c96-5d93-b923-ea6f663e0648
DOI: 10.1101/2020.06.11.146068

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