Varaico: Literature-Extracted Genetic Variants

Gene:MYH4
Variant:p.L342Q
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MYH4

NM_017533.2:p.L342Q

Associated Papers

A novel intronic single nucleotide polymorphism in the myosin heavy polypeptide 4 gene is responsible for the mini-muscle phenotype characterized by major reduction in hind-limb muscle mass in mice.

Kelly SA et al.

Genetics, 2013

The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q.

Lindqvist J et al.

Disease Models & Mechanisms, 2013

Myosinopathies: pathology and mechanisms.

Tajsharghi H et al.

Acta Neuropathologica, 2013

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.

Kurapati R et al.

Human Molecular Genetics, 2012

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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."