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Mutations on the Protein: P35914 From Positions: 33 To 49

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Swiss-Prot Disease: VAR_003744
p.ARG41GLN
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


Swiss-Prot Disease: VAR_003745
p.ASP42GLU
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


Swiss-Prot Disease: VAR_003746
p.ASP42GLY
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


Swiss-Prot Disease: VAR_003747
p.ASP42HIS
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


Swiss-Prot Disease: VAR_058440
p.GLU37LYS
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


Swiss-Prot Disease: VAR_058441
p.LYS48ASN
N/A
N/A
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)


OMIM Disease: 613898.0004
p.ARG41GLN
N/A
N/A
HMG-CoA LYASE DEFICIENCY






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