Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E245*
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AIPL1

NM_014336.5:p.E245*

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Sacristan-Reviriego A et al.

Scientific Reports, 2020

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