Details for Combination OLI1491

VARIANTS PSMD2:c.952A>G, p.Thr318Ala in Heterozygous form; DUOX2:c.1588A>T, p.Lys530Ter in Heterozygous form
GENE COMBINATION DUOX2; PSMD2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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