Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.D217Splc
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DMD

NM_004006.3:p.D217Splc

Associated Papers

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.

He QF et al.

European Journal of Neurology, 2025

41327964 (PubMed )
Supplement: ENE-32-e70442-s001.xls › Sheet1

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Sedlácková J et al.

Neuromuscular Disorders : Nmd, 2009

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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."