Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.D51G
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AIPL1

NM_014336.5:p.D51G

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Zhang Q et al.

American Journal of Ophthalmology, 2024

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H et al.

Investigative Ophthalmology & Visual Science, 2015

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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."