Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E794Splc
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DMD

NM_004006.3:p.E794Splc

Associated Papers

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

Beekman C et al.

Plos One, 2018

29641567 (PubMed )
Supplement: pone.0195850.s004.pdf
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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."