Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.E165V
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VAPB

NM_004738.5:p.E165V

Associated Papers

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Doronzio PN et al.

Journal of Neurology, 2025

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Libonati L et al.

Journal of Neurology, 2024

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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."