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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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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 |