Details for Combination OLI252

VARIANTS GJB3:c.580G>A, p.Ala194Thr in Heterozygous form; GJB2:p.Val193Glu in Heterozygous form
GENE COMBINATION GJB2; GJB3
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 27057829
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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