Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E155D
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AIPL1

NM_001033055.3:p.E155D

Associated Papers

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

Rashid M et al.

Plos One, 2020

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."