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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Detalles Bibliográficos
Autores principales: Babbi, Giulia, Savojardo, Castrense, Baldazzi, Davide, Martelli, Pier Luigi, Casadio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523224/
https://www.ncbi.nlm.nih.gov/pubmed/36188216
http://dx.doi.org/10.3389/fmolb.2022.966927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523224/
https://www.ncbi.nlm.nih.gov/pubmed/36188216
http://dx.doi.org/10.3389/fmolb.2022.966927

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