Details for Combination OLI308

VARIANTS LRP5:c.2092-4C>T, in Heterozygous form; FZD4:c.1589G>A, p.Gly530Glu in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 601813; 605750; 617572; 613310; 133780; 305390; 616468
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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