Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R1097G
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ABCA4

NM_000350.3:p.R1097G

Associated Papers

Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship.

Coppé AM et al.

Investigative Ophthalmology & Visual Science, 2025

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Falsini B et al.

Scientific Reports, 2022

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S1_Africa

Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Miere A et al.

Journal of Clinical Medicine, 2021

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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."