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- Spinal Muscular Atrophy (SMA)
- KIF1B : kinesin family member 1B
- IGSF6
- KIF5A
- KIF5C
- MBNL1-AS1
- MNX1
- MTMR9
- NHSL2
- NMNAT2
- RAMP2-AS1
- REEP1 : receptor accessory protein 1
- SMTNL2
- SRSF2
- STMN3
- SYNDIG1
- UCHL3
- ZFP91-CNTF
- The World of Rare Diseases: Understanding the Uncommon – An Indian Perspective
- Comprehensive List of Genetic and Rare Diseases
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