Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N688I
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ABCA4

NM_000350.3:p.N688I

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.pdf

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 › S1_ACMG_Categorisation.xlsx › Overview_S1

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Khan M et al.

Molecular Therapy. Nucleic Acids, 2020

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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."