Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.S187N
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CHMP2B

NM_014043.4:p.S187N

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

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

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

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

Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.

Ferrari R et al.

Alzheimer Disease and Associated Disorders, 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."