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Mutations on the Protein: Q6NVY1 From Positions: 116 To 135

2
1
0
1






Swiss-Prot Disease: VAR_031870
p.TYR122CYS
N/A
N/A
HIBCH deficiency (HIBCHD)


OMIM Disease: 610690.0002
p.TYR122CYS
N/A
N/A
3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY






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