Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes

Human genome resequencing projects provide an unprecedented amount of data about single-nucleotide variations occurring in protein-coding regions and often leading to observable changes in the covalent structure of gene products. For many of these variations, links to Online Mendelian Inheritance in...

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Detalles Bibliográficos
Autores principales: Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138129/
https://www.ncbi.nlm.nih.gov/pubmed/34026820
http://dx.doi.org/10.3389/fmolb.2021.617016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138129/
https://www.ncbi.nlm.nih.gov/pubmed/34026820
http://dx.doi.org/10.3389/fmolb.2021.617016

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