Details for Combination OLI297

VARIANTS FBN1:c.3455C>T, p.Ala1152Val in Heterozygous form; SLC39A8:c.813A>G, p.Ile271Met in Heterozygous form
GENE COMBINATION FBN1; SLC39A8
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Adolescent idiopathic scoliosis
REFERENCES 32381728
SCORES
FAMmanual
2

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
11


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