Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.Q398*
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RIPK1

NM_001354930.2:p.Q398*

Associated Papers

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

Zhao S et al.

Frontiers in Neuroscience, 2023

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.

Toth RP et al.

Frontiers in Immunology, 2018

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

Markovinovic A et al.

Progress in Neurobiology, 2017

Significance of optineurin mutations in glaucoma and other diseases.

Minegishi Y et al.

Progress in Retinal and Eye Research, 2016

Optineurin and amyotrophic lateral sclerosis.

Maruyama H et al.

Geriatrics & Gerontology International, 2013

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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."