Details for Combination OLI315

VARIANTS LRP5:c.3361A>G, p.Asn1121Asp in Heterozygous form; NDP:c.109C>T, p.Arg37Ter in Heterozygous form
GENE COMBINATION LRP5; NDP
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS 616468; 133780; 613310; 305390; 601813; 617572; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
01


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