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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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Bibliografiske detaljer
Udgivet i:Front Mol Biosci
Main Authors: Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8138129/
https://ncbi.nlm.nih.gov/pubmed/34026820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmolb.2021.617016
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