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Cohort analysis demonstrates high liver survival rates and unique genetic variant associations in Alagille syndrome.
• Compared to the GALA study cohort, the Korean cohort demonstrates superior NLS rates of 86.9%, 86.9%, and 76.6% at 5, 10, and 18 years and a higher frequency of non-truncating JAG1 variants, along with the absence of structural variants. • Protein-truncating variants are associated with higher initial gamma-glutamyl transferase levels, while frameshift variants are associated with reduced overall survival.
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Choi et al. (2026) studied this question.
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