Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.T46A
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VAPB

NM_004738.5:p.T46A

Associated Papers

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.

Suzuki H et al.

Journal of Neurochemistry, 2009

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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."