Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.I232M
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DMD

NM_004006.3:p.I232M

Associated Papers

Dystrophin missense mutations alter focal adhesion tension and mechanotransduction.

Ramirez MP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Disease-proportional proteasomal degradation of missense dystrophins.

Talsness DM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

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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."