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Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability
Accurate predictions of the pathogenicity of mutations associated with genetic diseases are key to the success of precision medicine. Inherited missense mutations in the myocilin (MYOC) gene, within its olfactomedin (OLF) domain, constitute the strongest genetic link to primary open-angle glaucoma v...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844228/ https://www.ncbi.nlm.nih.gov/pubmed/36579626 http://dx.doi.org/10.1242/dmm.049816 |