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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a search for protein-altering variants conferring...

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Detalles Bibliográficos
Publicado en:PLoS Genet
Main Authors: Tanigawa, Yosuke, Wainberg, Michael, Karjalainen, Juha, Kiiskinen, Tuomo, Venkataraman, Guhan, Lemmelä, Susanna, Turunen, Joni A., Graham, Robert R., Havulinna, Aki S., Perola, Markus, Palotie, Aarno, Daly, Mark J., Rivas, Manuel A.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7199928/
https://ncbi.nlm.nih.gov/pubmed/32369491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008682
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