Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.S194L
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CHMP2B

NM_014043.4:p.S194L

Associated Papers

A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.

Li C et al.

Molecular Genetics & Genomic Medicine, 2023

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Blue EE et al.

Dementia and Geriatric Cognitive Disorders, 2018

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.

Han JH et al.

Biochemical and Biophysical Research Communications, 2012

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M et al.

Journal of Neurology, 2010

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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."