Details for Combination OLI307

VARIANTS LRP5:c.2578T>C, p.Trp860Arg in Heterozygous form; FZD4:c.1078A>T, p.Ile360Phe in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS 616468; 133780; 613310; 305390; 601813; 617572; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
12


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