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