Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.L293P
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AIPL1

NM_014336.5:p.L293P

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

Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.

Majumder A et al.

The Journal of Biological Chemistry, 2013

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Sundaresan P et al.

Molecular Vision, 2009

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM

American Journal of Ophthalmology, 2007

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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."