Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.R795H
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DCTN1

NM_004082.5:p.R795H

Associated Papers

Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.

Hou X et al.

Npj Genomic Medicine, 2025

41271780 (PubMed )
Supplement: 41525_2025_531_MOESM1_ESM.pdf

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.

Pasutharnchat N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Rossi G et al.

Frontiers in Aging Neuroscience, 2022

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

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