Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.T567A
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OPTN

NM_001008212.2:p.T567A

Associated Papers

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

OPTN variants in ALS cases: a case report of a novel mutation and literature review.

Mou Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Prove pathogenicity of OPTN variants before establishing a causal relation with amyotrophic lateral sclerosis.

Finsterer J et al.

Neurobiology of Aging, 2021

Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.

Yang L et al.

Neurobiology of Aging, 2021

Theme 2 Genetics and genomics.

Roggenbuck J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."