Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E317*
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AIPL1

NM_014336.5:p.E317*

Associated Papers

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

Hidalgo-de-Quintana J et al.

Investigative Ophthalmology & Visual Science, 2008

The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.

van der Spuy J et al.

The Journal of Biological Chemistry, 2004

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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."