Case report
Open access
Aug 2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis
The findings expand the phenotypic spectrum of VPS41‐related disease and highlight the value of long‐read allelic resolution in clarifying pathogenic mechanisms in rare genetic disorders.
Natsuki Nakamura, Y. Nishio, Hiromi Nyuzuki et al.
· Molecular Genetics & Genomic... · 0 citations