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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |