Details for Combination OLI406

VARIANTS GJB2:c.96C>T, p.Arg32= in Heterozygous form; GJB3:c.284C>T, in Heterozygous form
GENE COMBINATION GJB2; GJB3
OLIGOGENIC EFFECT Unknown
ETHNICITY Iranian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 29318123
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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