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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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Détails bibliographiques
Publié dans:BMC Genomics
Auteurs principaux: Martelli, Pier Luigi, Fariselli, Piero, Savojardo, Castrense, Babbi, Giulia, Aggazio, Francesco, Casadio, Rita
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
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Accès en ligne: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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