Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.L196L
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DMD

NM_004006.3:p.L196L

Associated Papers

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.

Amr K et al.

Journal, Genetic Engineering & Biotechnology, 2024

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U et al.

Human Mutation, 2003

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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."