Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.G20Splc
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VAPB

NM_004738.5:p.G20Splc

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Leighton DJ et al.

Journal of Neurology, 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."