GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

Although the use of model systems for studying the mechanism of mutations that have a large effect is common, we highlight here the ways that zebrafish-model-system studies of a gene, GRIK5, that contributes to the polygenic liability to develop eye diseases have helped to illuminate a mechanism tha...

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Udgivet i:Am J Hum Genet
Main Authors: Unlu, Gokhan, Gamazon, Eric R., Qi, Xinzi, Levic, Daniel S., Bastarache, Lisa, Denny, Joshua C., Roden, Dan M., Mayzus, Ilya, Breyer, Max, Zhong, Xue, Konkashbaev, Anuar I., Rzhetsky, Andrey, Knapik, Ela W., Cox, Nancy J.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6407495/
https://ncbi.nlm.nih.gov/pubmed/30827500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.01.017
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