Details for Combination OLI760

VARIANTS GLDC:c.2203G>T, p.Val735Leu in Heterozygous form; ST14:c.508G>A, p.Glu170Lys in Heterozygous form; DACT1:c.2035T>C, p.Trp679Arg in Heterozygous form
GENE COMBINATION DACT1; GLDC; ST14
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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