Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E794Splc
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DMD

NM_004006.3:p.E794Splc

Associated Papers

Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.

Chu Y et al.

Italian Journal of Pediatrics, 2025

40598573 (PubMed )
Supplement: 13052_2025_2053_MOESM1_ESM.xlsx › Sheet1
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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."