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- Spinocerebellar Ataxia (SCA)
- PQBP1 : polyglutamine binding protein 1
- ATXN3L
- ATXN7
- ATXN7L1
- ATXN7L2
- ATXN7L3B
- ATXN8OS
- CACNA1S : calcium voltage-gated channel subunit alpha1 S
- DCTN5
- JAG1 : jagged canonical Notch ligand 1
- ATXN3 : ataxin 3
- SNX1
- SPIN2A
- STX6
- UBTD1
- ZBTB33
- Comprehensive List of Genetic and Rare Diseases
- Pelizaeus-Merzbacher Disease (PMD)
- Abetalipoproteinemia