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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNE

Variant:p.P41_V42insFs

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CHRNE

NM_000080.4:p.P41_V42insFs

hg38:chr17:4902687 T>TC

Associated Papers

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

17686188 (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."