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Mutations on the Protein: Q8TD16 From Positions: 82 To 124

3
2
0
1



Swiss-Prot Polymorphism: VAR_070111
p.LYS90ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_070112
p.SER107LEU
N/A
N/A
Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)


OMIM Disease: 609797.0001
p.SER107LEU
N/A
N/A
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT






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