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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMC1

Variant:p.Q431_P432insFs

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LAMC1

NM_002293.4:p.Q431_P432insFs

hg38:chr1:183115601 A>AG

Associated Papers

Congenital myasthenic syndrome: a brief review.

Lorenzoni PJ et al.

Pediatric Neurology, 2012

22353287 (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."