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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:BMC Genomics
Κύριοι συγγραφείς: Martelli, Pier Luigi, Fariselli, Piero, Savojardo, Castrense, Babbi, Giulia, Aggazio, Francesco, Casadio, Rita
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2016
Θέματα:
Διαθέσιμο Online: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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