Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882701/ https://www.ncbi.nlm.nih.gov/pubmed/33598480 http://dx.doi.org/10.3389/fmolb.2021.620793 |