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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Үндсэн зохиолчид:	Giulia Babbi, Castrense Savojardo, Davide Baldazzi, Pier Luigi Martelli, Rita Casadio
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2022-09-01
Цуврал:	Frontiers in Molecular Biosciences
Нөхцлүүд:	disease associated variant variation physicochemical type Pfam domain InterPro domain mondo anatomical system categories
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fmolb.2022.966927/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!