Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.H3Y
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OPTN

NM_001008212.2:p.H3Y

Associated Papers

Molecular genetics of primary open-angle glaucoma.

Yadav M et al.

Indian Journal of Ophthalmology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral Sclerosis.

Zhao S et al.

Frontiers in Neuroscience, 2023

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 3903

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.

Markovinovic A et al.

Progress in 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."