Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations, and clinical studies

Discovery of genotype-phenotype relationships remains a major challenge in clinical medicine. Here, we combined three sources of phenotypic data to uncover a novel mechanism for rare and common diseases resulting from collagen secretion deficits. Using zebrafish genetic screen, we identified the ric...

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Veröffentlicht in:Nat Med
Hauptverfasser: Unlu, Gokhan, Qi, Xinzi, Gamazon, Eric R., Melville, David B., Patel, Nisha, Rushing, Amy R., Hashem, Mais, Al-Faifi, Abdullah, Chen, Rui, Li, Bingshan, Cox, Nancy J., Alkuraya, Fowzan S., Knapik, Ela W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7147997/
https://ncbi.nlm.nih.gov/pubmed/31932796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41591-019-0705-y
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