Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.R38fs
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AIPL1

NM_014336.5:p.R38fs

Associated Papers

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

Vallespin E et al.

Investigative Ophthalmology & Visual Science, 2007

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH et al.

Investigative Ophthalmology & Visual Science, 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."