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Article

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

BMC genomics - 23 Jun 2016

Martelli Pier Luigi, Fariselli Piero, Savojardo Castrense, Babbi Giulia, Aggazio Francesco, Casadio Rita

Abstract excerpt

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 assume a particular relevance in annotating whether a single residue substitution can or cannot be associated to a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27356511
DOI: 10.1186/s12864-016-2726-y
PMCID: PMC4928156

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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