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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB. Gilbert MA, et al. Among authors: sottolano cj. Am J Hum Genet. 2024 Aug 8;111(8):1656-1672. doi: 10.1016/j.ajhg.2024.06.011. Epub 2024 Jul 22. Am J Hum Genet. 2024. PMID: 39043182 Free PMC article.