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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNE

Variant:p.I78_D79Splc

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CHRNE

NM_000080.4:p.I78_D79Splc

hg38:chr17:4902327 C>G

Associated Papers

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Polavarapu K et al.

Brain : a Journal of Neurology, 2024

37721175 (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."