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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIPL1

Variant:p.W278C

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AIPL1

NM_014336.5:p.W278C

hg38:chr17:6425781 C>G

Associated Papers

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.

Leung A et al.

Stem Cell Reports, 2022

36084639 (PubMed )

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