Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.E34Q
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DCTN1

NM_004082.5:p.E34Q

Associated Papers

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Nel M et al.

Neurology. Genetics, 2022

The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

Stockmann M et al.

Journal of Neural Transmission (vienna, Austria : 1996), 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."