Details for Combination OLI090

VARIANTS REC8:c.461A>G, p.Gln154Arg in Heterozygous form; GDF9:c.1360C>T, p.Arg454Cys in Heterozygous form
GENE COMBINATION GDF9; REC8
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
DISEASES Primary ovarian failure
REFERENCES 27603904
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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