Here’s a brief timeline from 2010-Present of NUBPL as a novel disease discovery to a growing community:
2010: Australian researchers reported “a strategy of focused candidate gene prediction, high-throughput sequencing, and experimental validation to uncover the molecular basis of mitochondrial complex I (CI) disorders.” They created five pools of DNA from a cohort of 103 patients and then performed deep sequencing of 103 candidate genes to spotlight 151 rare variants predicted to impact protein function. mais 1.051 palavras
