Details for Combination OLI040

VARIANTS DUOX1:c.1823-1G>C, p.Val607AspfsTer43 in Homozygous form; DUOX2:c.1300C>T, p.Arg434Ter in Homozygous form
GENE COMBINATION DUOX1; DUOX2
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28633507
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
02


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