@article{gilbert_functional_2024,
	title = {Functional characterization of 2,832 {JAG1} variants supports reclassification for {Alagille} syndrome and improves guidance for clinical variant interpretation},
	volume = {0},
	issn = {0002-9297, 1537-6605},
	url = {https://www.cell.com/ajhg/abstract/S0002-9297(24)00218-0},
	doi = {10.1016/j.ajhg.2024.06.011},
	language = {English},
	number = {0},
	urldate = {2024-07-24},
	journal = {The American Journal of Human Genetics},
	author = {Gilbert, Melissa A. and Keefer-Jacques, Ernest and Jadhav, Tanaya and Antfolk, Daniel and Ming, Qianqian and Valente, Nicolette and Shaw, Grace Tzun-Wen and Sottolano, Christopher J. and Matwijec, Grace and Luca, Vincent C. and Loomes, Kathleen M. and Rajagopalan, Ramakrishnan and Hayeck, Tristan J. and Spinner, Nancy B.},
	month = jul,
	year = {2024},
	pmid = {39043182},
	keywords = {ALGS, Alagille syndrome, Alamut, JAG1, MAVEs, NOTCH2, VOUS, genomic diagnostics, multiplexed assay of variant effects, variant classification, variant of uncertain significance},
}

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