Details for Combination OLI505

VARIANTS CELSR1:c.2305C>T, p.Arg769Trp in Heterozygous form; SCRIB:c.3323G>A, p.Gly1108Glu in Heterozygous form
GENE COMBINATION CELSR1; SCRIB
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 601634; 301410; 182940
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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