Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.T17_F18ins0
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DES

NM_001927.4:p.T17_F18ins0

Associated Papers

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L et al.

Genes, 2020

32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E et al.

Frontiers in Neurology, 2018

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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."