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Mutations on the Protein: P42898 From Positions: 295 To 328

4
3
0
1





Swiss-Prot Disease: VAR_004323
p.ARG325CYS
N/A
N/A
Methylenetetrahydrofolate reductase deficiency (MTHFRD)


Swiss-Prot Disease: VAR_009532
p.ASN324SER
N/A
N/A
Methylenetetrahydrofolate reductase deficiency (MTHFRD)


Swiss-Prot Disease: VAR_009531
p.LEU323PRO
N/A
N/A
Methylenetetrahydrofolate reductase deficiency (MTHFRD)


OMIM Disease: 607093.0012
p.LEU323PRO
N/A
N/A
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY






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