Details for Combination OLI541

VARIANTS UNC13D:c.1389+1G>A, in Heterozygous form; STXBP2:c.1782*12G>A, in Heterozygous form
GENE COMBINATION STXBP2; UNC13D
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 603552; 267700; 603553; 608898; 613101
DISEASES Familial hemophagocytic lymphohistiocytosis
REFERENCES 24916509
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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