Details for Combination OLI1478

VARIANTS CELSR3:p.Arg3289His in Heterozygous form; CELSR1:p.Arg730Trp in Heterozygous form
GENE COMBINATION CELSR1; CELSR3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 241550; 614435
DISEASES Hypoplastic left heart syndrome
REFERENCES 35133174
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
02


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