Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.N811K
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AHI1

NM_001134831.2:p.N811K

Associated Papers

Photoreceptor Cilia and Retinal Ciliopathies.

Bujakowska KM et al.

Cold Spring Harbor Perspectives in Biology, 2017

Genetic modifiers and oligogenic inheritance.

Kousi M et al.

Cold Spring Harbor Perspectives in Medicine, 2015

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A et al.

Human Molecular Genetics, 2012

Modeling human disease in humans: the ciliopathies.

Novarino G et al.

Cell, 2011

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F et al.

Human Mutation, 2010

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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."