Details for Combination OLI581

VARIANTS JAG1:p.Arg937Gln in Heterozygous form; TSHR:p.Ser562Gly in Heterozygous form
GENE COMBINATION JAG1; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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