Details for Combination OLI1250

VARIANTS LRP5:c.58_60dup, p.Leu20dup in Heterozygous form; ZNF408:c.581_592del, p.Val194_Val197del in Heterozygous form
GENE COMBINATION LRP5; ZNF408
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 601813; 605750; 617572; 613310; 133780; 305390; 616468
DISEASES Familial exudative vitreoretinopathy
REFERENCES 35328049
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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