Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.V249fs
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AIPL1

NM_014336.5:p.V249fs

Associated Papers

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Sacristan-Reviriego A et al.

Human Molecular Genetics, 2017

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

Bellingham J et al.

Investigative Ophthalmology & Visual Science, 2015

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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."