Details for Combination OLI296

VARIANTS COL11A2:c.277C>T, p.Arg93Cys in Heterozygous form; FLNB:c.3430G>C, p.Glu1144Gln in Heterozygous form; PTK7:c.1525C>T, p.Pro509Ser in Heterozygous form
GENE COMBINATION COL11A2; FLNB; PTK7
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Adolescent idiopathic scoliosis
REFERENCES 32381728
SCORES
FAMmanual
1

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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