Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K22delFs
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ABCA4

NM_000350.3:p.K22delFs

Associated Papers

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Runhart EH et al.

Jama Ophthalmology, 2020

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Smaragda K et al.

Journal of Ophthalmology, 2018

29854428 (PubMed )
Supplement: 5706142.f1.docx

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.

Jonsson F et al.

Advances in Experimental Medicine and Biology, 2014

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Jonsson F et al.

European Journal of Human Genetics : Ejhg, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."