Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I383V
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VCP

NM_007126.5:p.I383V

Associated Papers

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

TAR DNA-binding protein 43 in neurodegenerative disease.

Chen-Plotkin AS et al.

Nature Reviews. Neurology, 2010

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

González-Sánchez M et al.

Neurocase, 0

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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."