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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VAPB

Variant:p.E128V

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VAPB

NM_004738.5:p.E128V

hg38:chr20:58439012 A>T

Associated Papers

Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca2+ and synaptic defects.

Markovinovic A et al.

Acta Neuropathologica Communications, 2024

38395965 (PubMed )

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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."