LAUSR

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

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1 Published in 2022 at "Frontiers in Molecular Biosciences"

DOI: 10.3389/fmolb.2022.966927

Abstract: 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… read more here.

Keywords: pfam interpro; types human; human genes; variation ... See more keywords