Details for Combination OLI705

VARIANTS SALL4:c.2260G>A, p.Val754Met in Heterozygous form; ZNRF3:c.1278C>G, p.His426Gln in Heterozygous form
GENE COMBINATION SALL4; ZNRF3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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