Robuta

https://content.jci.org/articles/view/207998/figure/1 JCI Insight - De novo VPS16 missense variant causes infantile-onset dystonia with defective... jci insight de novo missense variant causes infantile https://osjournal.org/ojs/index.php/OSJ/article/view/3221 Novel missense variant in SPTBN2 possibly associated with spinocerebellar ataxia type 5 presenting... missense variant associated with spinocerebellar ataxia novel possibly