Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.Q621*
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AHR

NM_001621.5:p.Q621*

Associated Papers

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Smirnov VM et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

AlMoallem B et al.

Ophthalmic Genetics, 2022

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Mayer AK et al.

European Journal of Human Genetics : Ejhg, 2020

Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation.

Borovok N et al.

Frontiers in Genetics, 2020

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Mayer AK et al.

Brain : a Journal of Neurology, 2019

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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."