Details for Combination OLI583

VARIANTS DUOX2:p.Arg726Trp in Heterozygous form; GLIS3:c.1126C>T, p.Pro376Ser in Heterozygous form; GLIS3:c.1090C>T, p.Pro364Ser in Heterozygous form
GENE COMBINATION DUOX2; GLIS3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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