RS140330283 JAG1
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Associated Conditions
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness
congenital heart defects
and posterior embryotoxon
Charcot-Marie-Tooth disease
axonal
Type 2HH
Tetralogy of Fallot
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness
congenital heart defects
Other Variants in JAG1