Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.L172H
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DMD

NM_004006.3:p.L172H

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

Contraction-Induced Loss of Plasmalemmal Electrophysiological Function Is Dependent on the Dystrophin Glycoprotein Complex.

Baumann CW et al.

Frontiers in Physiology, 2021

Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy.

McCourt JL et al.

Human Molecular Genetics, 2018

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

The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Gao QQ et al.

Comprehensive Physiology, 2015

Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.

Henderson DM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.

Hamed S et al.

Clinical Genetics, 2005

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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."