Details for Combination OLI1744

VARIANTS SLIT1:c.446C>T, p.Pro149Leu in Heterozygous form; SLIT2:c.3877C>A, p.Leu1293Met in Heterozygous form
GENE COMBINATION SLIT1; SLIT2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 109730; 614823
DISEASES Familial bicuspid aortic valve
REFERENCES 36855159
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
00


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