Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.C493delFs
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LAMB2

NM_002292.4:p.C493delFs

Associated Papers

[Genetic defects and disorders at the neuromuscular junction].

Ohno K

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V et al.

Human Mutation, 2010

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

Maselli RA et al.

Journal of Medical Genetics, 2009

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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."