Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.R41Q
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DCTN1

NM_004082.5:p.R41Q

Associated Papers

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

DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.

Stoker TB et al.

Journal of Neurology, 2022

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.

Liang WS et al.

Genome Research, 2017

28373299 (PubMed )
Supplement: supp_gr.213348.116_Supplemental_Tables.xlsx › SuppTableS5
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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."