Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.N184delFs
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DMD

NM_004006.3:p.N184delFs

Associated Papers

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Todorova A et al.

Neurogenetics, 2007

Calpain-3 mutations in Turkey.

Balci B et al.

European Journal of Pediatrics, 2006

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.

Hermanová M et al.

Muscle & Nerve, 2006

Novel mutations in the calpain 3 gene in Germany.

Todorova A et al.

Clinical Genetics, 2005

Beta-sarcoglycan gene mutations in Turkey.

Balci B et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

Chrobáková T et al.

Neuromuscular Disorders : Nmd, 2004

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Fanin M et al.

Human Mutation, 2004

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Dinçer P et al.

Annals of Neurology, 1997

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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."