Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E180Q
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TPM1

NM_001018005.2:p.E180Q

Associated Papers

Functional analysis of human cardiac troponin by the in vitro motility assay: comparison of adult, foetal and failing hearts.

Purcell IF et al.

Cardiovascular Research, 1999

A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity.

Bottinelli R et al.

Circulation Research, 0

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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."