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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NECAB2

Variant:p.R307H

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NECAB2

NM_019065.3:p.R307H

hg38:chr16:83998275 G>A

Associated Papers

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A et al.

Neurology, 2017

28188302 (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."