Details for Combination OLI027

VARIANTS WNT9B:c.6dupC, p.Arg2fsTer55 in Heterozygous form; Copy Number Variant deletion on chromosome 2 of the 2p24.2 in the gene GEN1 in Heterozygous form
GENE COMBINATION GEN1; WNT9B
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Müllerian aplasia
REFERENCES 31628433
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
303

FUN
manualmeta
33

FINAL
manualmeta
33


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