Details for Combination OLI747

VARIANTS CELSR2:c.3041T>A, p.Leu1014His in Heterozygous form; NOG:c.275G>A, p.Gly92Glu in Heterozygous form; SOD2:c.201G>C, p.Glu67Asp in Heterozygous form
GENE COMBINATION CELSR2; NOG; SOD2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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