Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Y11Splc
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DMD

NM_004006.3:p.Y11Splc

Associated Papers

Optimized efficient screening for Duchenne muscular dystrophy carriers using proto-oncogene tyrosine-protein kinase receptor Ret.

Hong D et al.

Laboratory Medicine, 2025

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation.

Zhu S et al.

Stem Cell Research, 2020

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

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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."