Details for Combination OLI1092

VARIANTS NKX2-5:p.214dup in Heterozygous form; TG:p.Ser1222Leu in Heterozygous form
GENE COMBINATION NKX2-5; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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