Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.L189V
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CAPN3

NM_000070.3:p.L189V

Associated Papers

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Izumi R et al.

Neurology. Genetics, 2015

[A case of LGMD2A identified with both western blot analysis and immunostaining of calpain 3 in biopsied muscle].

Ibi T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2000

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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."