Details for Combination OLI1808

VARIANTS DUOX2:c.2335G>A, p.Val779Met in Heterozygous form; TG:c.6130C>T, p.Arg2044Cys in Heterozygous form
GENE COMBINATION DUOX2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 37390946
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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