Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.L541P
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CNGA3

NM_001298.3:p.L541P

Associated Papers

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Panneman DM et al.

Investigative Ophthalmology & Visual Science, 2025

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 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."