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Paper Details

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
PLoS Genet
13
2020
9 bp deletion, ASEF2, Adenomatous polyposis coli-stimulated guanine nucleotide exchange factor 2, CENP-E, GEF, NP, PAC, PACG, PACS, PLK-1, RAC1, SPATA13, SPATA13 isoform I, Spermatogenesis Associated Protein 13, angle-closure disease, c, c.1432_1440del; p.478_480del, cell lines, centrosome-associated protein E, gene, glaucoma blindness, guanine nucleotide, guanine nucleotide exchange factors, human, polo like kinase 1, primary angle closure glaucoma, primary angle-closure glaucoma
Author NameAffiliation
Michael A SimpsonKing's College London
Alexander C DayMoorfields Eye Hospital NHS Foundation Trust
Ananth C ViswanathanNIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology
Ananth C ViswanathanUCL Institute of Ophthalmology
Ananth C ViswanathanMoorfields Eye Hospital NHS Foundation Trust
Heather J CordellInstitute of Genetic Medicine, Newcastle University
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