Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K969E
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ABCA4

NM_000350.3:p.K969E

Associated Papers

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Miller C et al.

Ophthalmic Genetics, 2025

39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

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

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Heath Jeffery RC et al.

Ophthalmology Science, 2021

36246008 (PubMed )
Supplement: mmc2.pdf
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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."