Details for Combination OLI1094

VARIANTS HOXB3:c.548C>T, p.Pro183Leu in Heterozygous form; JAG1:c.526G>A, p.Val176Ile in Heterozygous form; TG:c.7753C>T, p.Arg2585Trp in Heterozygous form
GENE COMBINATION HOXB3; JAG1; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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