Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.S1080F
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DCTN1

NM_004082.5:p.S1080F

Associated Papers

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.

Lee B et al.

Journal of Neuromuscular Diseases, 2025

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

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.

Tacik P et al.

The New Zealand Medical Journal, 2020

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T et al.

Parkinsonism & Related Disorders, 2017

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

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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."