Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

Keyphrases

• Alagille Syndrome 100%
• Disease-specific 100%
• Jagged1 100%
• Notch2 100%
• Phenotypic Divergence 100%
• Variant Classification Guidelines 100%
• Overall Survival 13%
• Native Liver Survival 13%
• Clinical Data 6%
• Haploinsufficiency 6%
• Clinical Phenotyping 6%
• Low Incidence 6%
• Genetic Testing 6%
• Patient Cohort 6%
• Phenotypic Heterogeneity 6%
• Molecular Data 6%
• Reclassification 6%
• Inclusive Approach 6%
• Current Guidelines 6%
• Cardiac Involvement 6%
• Kaplan-Meier 6%
• Autosomal Dominant Disorder 6%
• Phenotypic Analysis 6%
• Log-rank Test 6%
• Phenotypic Differences 6%
• American College of Medical Genetics 6%
• Survival Comparison 6%
• International Patients 6%
• Posterior Embryotoxon 6%
• Butterfly Vertebra 6%
• Medical Genomics 6%
• Disease Features 6%
• Disease Variants 6%
• Novel Variant 6%
• Genes Comparison 6%
• Current Comparison 6%

Biochemistry, Genetics and Molecular Biology

• Overall Survival 100%
• Medical Genomics 50%
• Genetics 50%
• Medical Genetics 50%
• Phenotypic Heterogeneity 50%
• Haploinsufficiency 50%
• Genetic Screening 50%
• Autosomal Dominant Inheritance 50%