Details for Combination OLI1089

VARIANTS EYA1:c.1082G>A, p.Arg361Gln in Heterozygous form; DUOX2:c.2335G>A, p.Val779Met in Heterozygous form
GENE COMBINATION DUOX2; EYA1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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