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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMB2

Variant:p.Q1460*

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LAMB2

NM_002292.4:p.Q1460*

hg38:chr3:49122899 G>A

Associated Papers

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Elia N et al.

Neurology, 2019

30824560 (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."