Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L2094_D2095Splc
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ABCA4

NM_000350.3:p.L2094_D2095Splc

Associated Papers

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Martins PM et al.

Investigative Ophthalmology & Visual Science, 2026

41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2

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

Coppé AM et al.

Investigative Ophthalmology & Visual Science, 2025

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Kaltak M et al.

Journal of Translational Medicine, 2023

37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4
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