Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S445N
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ABCA4

NM_000350.3:p.S445N

Associated Papers

Technological advances in the diagnosis and management of inherited optic neuropathies.

Britton JOT et al.

Frontiers in Neurology, 2025

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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."