Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.Q288*
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AIPL1

NM_014336.5:p.Q288*

Associated Papers

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Galieva A et al.

International Journal of Molecular Sciences, 2025

A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.

Gumus E et al.

Fetal and Pediatric Pathology, 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."