Details for Combination OLI1060

VARIANTS BMP15:c.202C>T, p.Arg68Trp in Heterozygous form; GDF9:c.278A>G, p.Tyr93Cys in Heterozygous form; GDF9:c.1121C>T, p.Pro374Leu in Heterozygous form
GENE COMBINATION BMP15; GDF9
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618117; 618723; 300510; 614324; 618078
DISEASES Primary ovarian failure
REFERENCES 34803902
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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