Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1481P
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MYH7

NM_000257.4:p.L1481P

Associated Papers

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.

Buvoli M et al.

The Journal of Clinical Investigation, 2024

38690726 (PubMed )
Supplement: jci-134-172599-s014.pdf

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.

Muelas N et al.

European Journal of Neurology, 2021

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ et al.

Human Mutation, 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."