Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.C89Y
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AIPL1

NM_014336.5:p.C89Y

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.

Johnson JL

Frontiers in Molecular Biosciences, 2021

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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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."