Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.S153N
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CSRP3

NM_003476.5:p.S153N

Associated Papers

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Schessl J et al.

Brain : a Journal of Neurology, 2009

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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."