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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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Detalles Bibliográficos
Autores principales: Martelli, Pier Luigi, Fariselli, Piero, Savojardo, Castrense, Babbi, Giulia, Aggazio, Francesco, Casadio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928156/
https://www.ncbi.nlm.nih.gov/pubmed/27356511
http://dx.doi.org/10.1186/s12864-016-2726-y