Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.L802*
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MYH2

NM_017534.6:p.L802*

Associated Papers

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.

Madigan NN et al.

Acta Neuropathologica Communications, 2021

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Willis T et al.

Journal of Neurology, 2016

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H et al.

European Journal of Human Genetics : Ejhg, 2014

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H et al.

Brain : a Journal of Neurology, 2010

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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."