Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R205Q
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TNNT2

NM_001001430.3:p.R205Q

Associated Papers

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Pezzoli L et al.

Journal of Cardiovascular Development and Disease, 2021

Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

Pan S et al.

Bmc Medical Genetics, 2015

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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."