Siying Lin
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As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Articles
The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
ArticleVolume 7, Issue 4100659Open access Affiliations & Notes 1Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 128 08, Czechia 2Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 120 00, Czechia 3Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, 4031, Switzerland 4Department of...
Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes
Inherited retinal diseases (IRDs) are a leading cause of vision impairment in children and working-age adults in several countries. Retinitis pigmentosa (RP) is the most frequent phenotype. Bi-allelic pathogenic variants in any one of many genes can cause autosomal recessive RP (ARRP).
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