Details for Combination OLI716

VARIANTS INTU:c.1682T>C, p.Ile561Thr in Heterozygous form; CXCL6:c.239dup, p.Val81GlyfsTer44 in Heterozygous form; SHROOM1:c.554G>T, p.Arg185Leu in Heterozygous form
GENE COMBINATION CXCL6; INTU; SHROOM1
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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