Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.T184delFs
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DYSF

NM_001130987.2:p.T184delFs

Associated Papers

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Sarıkaya Uzan G et al.

Molecular Syndromology, 2024

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K et al.

Bmc Neurology, 2014

Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

Kramerova I et al.

Biochimica Et Biophysica Acta, 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

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

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z et al.

Ceskoslovenska Patologie, 2001

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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."