Details for Combination OLI002

VARIANTS BMPR2:c.77-5_77-2delTTTA, in Heterozygous form; NOTCH3:c.181C>T, p.Arg61Trp in Heterozygous form
GENE COMBINATION BMPR2; NOTCH3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Idiopathic pulmonary arterial hypertension
REFERENCES 33007923
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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