Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.R6G
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MYOT

NM_006790.3:p.R6G

Associated Papers

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.

Puž V et al.

Scientific Reports, 2017

28638118 (PubMed )
Supplement: 41598_2017_3323_MOESM2_ESM.pdf

New aspects of myofibrillar myopathies.

Kley RA et al.

Current Opinion in Neurology, 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G et al.

Journal of Neuromuscular Diseases, 2016

Novel recessive myotilin mutation causes severe myofibrillar myopathy.

Schessl J et al.

Neurogenetics, 2014

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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."