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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIPL1

Variant:p.V249A

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AIPL1

NM_014336.5:p.V249A

hg38:chr17:6426653 A>G

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

41465493 (PubMed )

Supplement: ijms-26-12066-s001.zip › ijms-3989837-supplementary.xlsx › muts_features

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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."