Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping

Grouping residue variations in a protein according to their physicochemical properties allows a dimensionality reduction of all the possible substitutions in a variant with respect to the wild type. Here, by using a large dataset of proteins with disease-related and benign variations, as derived by...

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Prif Awduron:	Giulia Babbi, Castrense Savojardo, Davide Baldazzi, Pier Luigi Martelli, Rita Casadio
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Frontiers Media S.A. 2022-09-01
Cyfres:	Frontiers in Molecular Biosciences
Pynciau:	disease associated variant variation physicochemical type Pfam domain InterPro domain mondo anatomical system categories
Mynediad Ar-lein:	https://www.frontiersin.org/articles/10.3389/fmolb.2022.966927/full
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