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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCHE

Variant:p.V421_G422insFs

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BCHE

NM_000055.4:p.V421_G422insFs

hg38:chr3:165829771 A>AG

Associated Papers

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J et al.

Brain : a Journal of Neurology, 2007

17452375 (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."