Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.L446R
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OPA1

NM_130837.3:p.L446R

Associated Papers

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Xu X et al.

Molecular Genetics and Genomics : Mgg, 2021

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.

Zhang AM et al.

Molecular Neurobiology, 2017

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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."