Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.K130R
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CHMP2B

NM_014043.4:p.K130R

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

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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."