Details for Combination OLI338

VARIANTS FUZ:c.819C>A, p.Asp273Glu in Heterozygous form; MAP3K7:c.1115G>A, p.Arg372His in Heterozygous form; POR:c.1798C>T, p.Arg600Trp in Heterozygous form
GENE COMBINATION FUZ; MAP3K7; POR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 118100; 613702; 214300
DISEASES Isolated Klippel-Feil syndrome
REFERENCES 32278351
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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