Details for Combination OLI595

VARIANTS GLIS3:c.1145C>A, p.Pro382Gln in Heterozygous form; SLC26A4:c.1150-1G>A, in Heterozygous form
GENE COMBINATION GLIS3; 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
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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