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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNB1

Variant:p.G20Splc

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CHRNB1

NM_000747.3:p.G20Splc

hg38:chr17:7445269 G>A

Associated Papers

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V et al.

Brain : a Journal of Neurology, 2008

18180250 (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."