Details for Combination OLI728

VARIANTS LAMC1:c.2871G>T, p.Gln957His in Heterozygous form; GRHL2:c.641G>A, p.Ser214Asn in Heterozygous form
GENE COMBINATION GRHL2; LAMC1
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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