Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.T387Splc
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AHR

NM_001621.5:p.T387Splc

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

Genetics of Inherited Retinal Diseases in Understudied Populations.

Kannabiran C et al.

Frontiers in Genetics, 2022

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Zhou Y et al.

Human Molecular Genetics, 2018

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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."