Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1454T
Back to variants list

MYH7

NM_000257.4:p.A1454T

Associated Papers

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.

Lefter S et al.

Neuromuscular Disorders : Nmd, 2015

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

Lamont PJ et al.

Human Mutation, 2014

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

Perrot A et al.

Journal of Molecular Medicine (berlin, Germany), 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."