Details for Combination OLI713

VARIANTS ZIC3:c.49G>T, p.Gly17Cys in Heterozygous form; ALX1:c.182A>G, p.His61Arg in Heterozygous form; MTRR:c.1549A>G, p.Thr517Ala in Heterozygous form
GENE COMBINATION ALX1; MTRR; ZIC3
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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