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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNG

Variant:p.R147R

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CHRNG

NM_005199.5:p.R147R

hg38:chr2:232541464 T>A

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."