Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.M252R
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CAPN3

NM_000070.3:p.M252R

Associated Papers

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Aguti S et al.

Cells, 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M et al.

European Journal of Human Genetics : Ejhg, 2009

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Fanin M et al.

Human Mutation, 2004

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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."