Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.L94P
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TPM2

NM_003289.4:p.L94P

Associated Papers

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

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

When contractile proteins go bad: the sarcomere and skeletal muscle disease.

Laing NG et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2005

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

Costa CF et al.

Journal of Cell Science, 2004

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB et al.

Annals of Neurology, 2004

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

Sparrow JC et al.

Neuromuscular Disorders : Nmd, 2003

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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."