Details for Combination OLI1255

VARIANTS KIF11:c.1578C>A, p.His526Gln in Heterozygous form; ZNF408:c.581_592del, p.Val194_Val197del in Homozygous form
GENE COMBINATION KIF11; ZNF408
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 35328049
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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