Details for Combination OLI518

VARIANTS DUOX2:c.2895_2898delGTTC, p.Phe966SerfsTer29 in Heterozygous form; DUOX2:c.280G>A, p.Gly94Ser in Heterozygous form; TSHR:c.1516G>A, p.Glu506Lys in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32765423
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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