Details for Combination OLI742

VARIANTS NOS2:c.1893C>A, p.Tyr631Ter in Heterozygous form; GART:c.1730T>C, p.Met577Thr in Heterozygous form
GENE COMBINATION GART; NOS2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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