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Mutations on the Protein: Q5TBB1 From Positions: 172 To 187

3
1
0
2



Swiss-Prot Disease: VAR_027285
p.VAL185GLY
N/A
N/A
Aicardi-Goutieres syndrome 2 (AGS2)


OMIM Disease: 610326.0001
p.ALA177THR
N/A
N/A
AICARDI-GOUTIERES SYNDROME 2


OMIM Disease: 610326.0002
p.VAL185GLY
N/A
N/A
AICARDI-GOUTIERES SYNDROME 2






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