Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.L421L
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CAPN3

NM_000070.3:p.L421L

Associated Papers

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M et al.

Neuromuscular Disorders : Nmd, 2015

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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."