Details for Combination OLI005

VARIANTS ABCC8:c.3394G>A, p.Asp1132Asn in Heterozygous form; SARS2:c.136G>A, p.Glu46Lys in Heterozygous form
GENE COMBINATION ABCC8; SARS2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Pulmonary arterial hypertension associated with congenital heart disease
REFERENCES 33007923
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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