Condition: SPINOCEREBELLAR ATAXIA 47


rs1557539450 in PUM1 gene and SPINOCEREBELLAR ATAXIA 47 PMID 29474920 2018 A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

rs1557541619 in PUM1;SNORD103A gene and SPINOCEREBELLAR ATAXIA 47 PMID 29474920 2018 A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.