Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract-Reference-Cited by-同舟云学术

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

Published:2022-06-24 Issue:6 Volume:63 Page:25
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Young Terri L.¹,Whisenhunt Kristina N.¹,LaMartina Sarah M.¹,Hewitt Alex W.²³⁴,Mackey David A.²³⁴,Tompson Stuart W.¹

Affiliation:

1. Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, United States

2. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia

3. Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia

4. Eye Department, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania, Australia

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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3. CADD: predicting the deleteriousness of variants throughout the human genome;Rentzsch;Nucleic Acids Res,2019

4. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity;Souma;J Clin Invest,2016

5. Assaying the effects of splice site variants by exon trapping in a mammalian cell line;Tompson;Bio Protoc,2017

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