Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.R186*
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CHMP2B

NM_014043.4:p.R186*

Associated Papers

Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.

Ugbode C et al.

Neurobiology of Disease, 2021

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

ESCRT, autophagy, and frontotemporal dementia.

Lee JA et al.

Bmb Reports, 2008

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

van der Zee J et al.

Human Molecular Genetics, 2008

Genetic variability in CHMP2B and frontotemporal dementia.

Momeni P et al.

Neuro-degenerative Diseases, 2006

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."