Olga Levchenko Alexandra Filatova Irina Mishina Aleksey Antonenko Mikhail Skoblov
10.3389/fgene.2023.1197681
Front Genet
2023 Jul 6;14:1197681.
scar20 snx14 gene ataxia deep intronic variants intellectual and developmental disabilities whole genome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/37485342/
Case Reports
PMC10359490
37485342
Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
2023