Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1), but also by variants in NOTCH2. The majority of JAG1 variants result in loss of function, however disease has also been attri...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Mutation Update
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6899717/
https://ncbi.nlm.nih.gov/pubmed/31343788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23879
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