Details for Combination OLI591

VARIANTS DUOX2:p.Ala728Thr in Heterozygous form; SLC26A4:c.765+4A>C, in Heterozygous form; PAX8:p.Lys135Arg in Heterozygous form
GENE COMBINATION DUOX2; PAX8; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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