Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.L193L
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TNNT1

NM_003283.6:p.L193L

Associated Papers

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Stavusis J et al.

Journal of Muscle Research and Cell Motility, 2020

Myopathology in congenital myopathies.

Sewry CA et al.

Neuropathology and Applied Neurobiology, 2017

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

van der Pol WL et al.

Molecular Genetics & Genomic Medicine, 2014

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ et al.

American Journal of Human Genetics, 2000

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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."