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Mutations on the Protein: Q8TD16 From Positions: 494 To 536

3
1
0
2



Swiss-Prot Disease: VAR_070116
p.LYS508THR
N/A
N/A
Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)


OMIM Disease: 609797.0005
p.ARG501PRO
N/A
N/A
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT


OMIM Disease: 609797.0006
p.LYS508THR
N/A
N/A
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT






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