Varaico: Literature-Extracted Genetic Variants

Gene:DCTN4
Variant:p.C418R
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DCTN4

NM_016221.4:p.C418R

Associated Papers

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Smith LA et al.

Acta Neuropathologica, 2025

40445405 (PubMed )
Supplement: 401_2025_2891_MOESM1_ESM.docx

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

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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."