Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.I87T
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DCTN1

NM_004082.5:p.I87T

Associated Papers

Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.

Fukui Y et al.

Biological & Pharmaceutical Bulletin, 2024

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

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

Tey S et al.

Clinical Genetics, 2016

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK et al.

Parkinsonism & Related Disorders, 2016

DCTN1 mutations in Perry syndrome.

Farrer MJ et al.

Nature Genetics, 2009

19136952 (PubMed )
Supplement: NIHMS169662-supplement-supplementary_material.pdf
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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."