Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.L276M
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MYOT

NM_006790.3:p.L276M

Associated Papers

Differential diagnosis of vacuolar myopathies in the NGS era.

Mair D et al.

Brain Pathology (zurich, Switzerland), 2020

The Limb-Girdle Muscular Dystrophies.

Wicklund MP

Continuum (minneapolis, Minn.), 2019

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 2019

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Di Fruscio G et al.

European Journal of Human Genetics : Ejhg, 2016

25898921 (PubMed )
Supplement: ejhg201576x2.xls › Foglio1

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Yamamoto LU et al.

The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008

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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."