Details for Combination OLI1790

VARIANTS SLC34A3:p.Ser192Leu in Homozygous form; SLC34A1:c.272_292del21, p.Val91_Ala97del in Homozygous form
GENE COMBINATION SLC34A1; SLC34A3
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 300554; 300555; 300009; 308990; 310468
DISEASES Dent disease
REFERENCES 37432176
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
303

FUN
manualmeta
33

FINAL
manualmeta
11


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