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Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants
Pathogenic variants in PINK1 cause early-onset Parkinson’s disease. Although many PINK1 variants have been reported, the clinical significance is uncertain for the majority of them. To gain insights into the consequences of PINK1 missense variants in a systematic manner, we selected 50 PINK1 missens...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664852/ https://www.ncbi.nlm.nih.gov/pubmed/34893635 http://dx.doi.org/10.1038/s41531-021-00258-8 |