Details for Combination OLI032

VARIANTS DUOX2:c.3329G>A, p.Arg1110Gln in Homozygous form; DUOX1:c.1525C>T, p.Arg509Trp in Homozygous form
GENE COMBINATION DUOX1; DUOX2
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY African
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 30375286
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
12


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