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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNB1

Variant:p.S171_Y174del0

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CHRNB1

NM_000747.3:p.S171_Y174del0

hg38:chr17:7447546 TCAGCTCCTA>T

Associated Papers

Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.

Guan J et al.

Brain & Development, 2025

40768883 (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."