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Large scale analysis of protein stability in OMIM disease related human protein variants

BACKGROUND: Modern genomic techniques allow to associate several Mendelian human diseases to single residue variations in different proteins. Molecular mechanisms explaining the relationship among genotype and phenotype are still under debate. Change of protein stability upon variation appears to as...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Martelli, Pier Luigi, Fariselli, Piero, Savojardo, Castrense, Babbi, Giulia, Aggazio, Francesco, Casadio, Rita
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4928156/
https://ncbi.nlm.nih.gov/pubmed/27356511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-016-2726-y
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