Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.N54S
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CHMP2B

NM_014043.4:p.N54S

Associated Papers

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis.

Blair IP et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).

Parkinson N et al.

Neurology, 2006

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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."