Details for Combination OLI127

VARIANTS PRKN:c.523del, p.Thr175ProfsTer2 in Homozygous form; PINK1:c.169_170dup, p.Arg58_Val59insGlyArg in Heterozygous form
GENE COMBINATION PINK1; PRKN
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Parkinson disease
REFERENCES 18546294; 32713623
SCORES
FAMmanual
1

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
000

FUN
manualmeta
11

FINAL
manualmeta
11


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