Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.N449K
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CAPN3

NM_000070.3:p.N449K

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Mathur P et al.

Global Medical Genetics, 2025

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

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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."