Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q263L
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TPM1

NM_001018005.2:p.Q263L

Associated Papers

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

Dual requirement for flexibility and specificity for binding of the coiled-coil tropomyosin to its target, actin.

Singh A et al.

Structure (london, England : 1993), 2006

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

Costa CF et al.

Journal of Cell Science, 2004

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC et al.

Neuromuscular Disorders : Nmd, 2003

Tropomyosin ends determine the stability and functionality of overlap and troponin T complexes.

Palm T et al.

Biophysical Journal, 2003

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ et al.

Nature Genetics, 1999

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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."