Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

Missense variants are among the most studied genome modifications as disease biomarkers. It has been shown that the “perturbation” of the protein stability upon a missense variant (in terms of absolute ΔΔG value, i.e., |ΔΔG|) has a significant, but not predictive, correlation with the pathogenicity...

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Bibliografiska uppgifter
I publikationen:Front Mol Biosci
Huvudupphovsmän: Birolo, Giovanni, Benevenuta, Silvia, Fariselli, Piero, Capriotti, Emidio, Giorgio, Elisa, Sanavia, Tiziana
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2021
Ämnen:
Molecular Biosciences
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7882701/
https://ncbi.nlm.nih.gov/pubmed/33598480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmolb.2021.620793
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