Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.C3207*
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DMD

NM_004006.3:p.C3207*

Associated Papers

Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy.

Buitrago T et al.

The Journal of Applied Laboratory Medicine, 2023

Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.

Zhang Y et al.

Molecular Genetics & Genomic Medicine, 2019

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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."