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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10.
Am J Hum Genet. 2006.
PMID: 16773578
Free PMC article.
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez-Lara PA, Piccoli DA, Krantz ID, Spinner NB.
Warthen DM, et al.
Hum Mutat. 2006 May;27(5):436-43. doi: 10.1002/humu.20310.
Hum Mutat. 2006.
PMID: 16575836
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