Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S1806N
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ABCA4

NM_000350.3:p.S1806N

Associated Papers

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.

Bianco L et al.

Jama Ophthalmology, 2023

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Cornelis SS et al.

Human Mutation, 2023

40225145 (PubMed )
Supplement: 6815504.f1.zip › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare

Reading Ability and Quality of Life in Stargardt Disease.

Murro V et al.

European Journal of Ophthalmology, 2017

Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Verdina T et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017

En face OCT in Stargardt disease.

Sodi A et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016

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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."