Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E280V
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AIPL1

NM_014336.5:p.E280V

Associated Papers

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Skorczyk-Werner A et al.

Journal of Applied Genetics, 2023

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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."