Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.L41L
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OPTN

NM_001008212.2:p.L41L

Associated Papers

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Bury JJ et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.

Del Bo R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

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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."