Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.E508_V509Splc
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CAPN3

NM_000070.3:p.E508_V509Splc

Associated Papers

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Mori-Yoshimura M et al.

Muscle & Nerve, 2017

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Park HJ et al.

Yonsei Medical Journal, 2016

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

Keira Y et al.

Neuroscience Research, 2007

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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."