Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.R147*
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CAPN3

NM_000070.3:p.R147*

Associated Papers

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

Chakravorty S et al.

Frontiers in Neurology, 2020

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2018

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.

Matsubara E et al.

European Journal of Neurology, 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."