Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.Q74K
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MYOT

NM_006790.3:p.Q74K

Associated Papers

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E et al.

Frontiers in Neurology, 2018

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

Puž V et al.

Scientific Reports, 2017

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

Otten E et al.

Heart Rhythm, 2010

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.

Shalaby S et al.

Journal of Neuropathology and Experimental Neurology, 2009

The Z-disk diseases.

Selcen D et al.

Advances in Experimental Medicine and Biology, 2008

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H et al.

Human Mutation, 2007

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M et al.

Brain : a Journal of Neurology, 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."