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Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism
Defects in ATP synthase functioning due to the substitutions in its two mitochondrially encoded subunits a and 8 lead to untreatable mitochondrial diseases. Defining the character of variants in genes encoding these subunits is challenging due to their low frequency, heteroplasmy of mitochondrial DN...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10282124/ https://www.ncbi.nlm.nih.gov/pubmed/37340059 http://dx.doi.org/10.1038/s41598-023-36637-9 |