Details for Combination OLI1571

VARIANTS GLI3:c.3935T>G, p.Met1312Arg in Heterozygous form; POR:c.683C>T, p.Pro228Leu in Heterozygous form
GENE COMBINATION GLI3; POR
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES Syndrome with 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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