Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E137K
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DMD

NM_004006.3:p.E137K

Associated Papers

Structure and assembly of the dystrophin glycoprotein complex.

Wan L et al.

Nature, 2025

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T et al.

Human Mutation, 2012

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Gouveia TL et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2006

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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."