Details for Combination OLI506

VARIANTS CELSR1:c.8772G>C, p.Gln2924His in Heterozygous form; SCRIB:c.1853A>G, p.Lys618Arg in Heterozygous form
GENE COMBINATION CELSR1; SCRIB
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 182940; 601634; 301410
DISEASES Isolated spina bifida
REFERENCES 29573971
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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