Details for Combination OLI596

VARIANTS SLC26A4:c.1003T>C, p.Phe335Leu in Heterozygous form; TG:p.Val1105Ile in Heterozygous form
GENE COMBINATION SLC26A4; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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