Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.P192_L193Fs
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TNNT1

NM_003283.6:p.P192_L193Fs

Associated Papers

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.

Laitila J et al.

The Journal of Physiology, 2025

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Stavusis J et al.

Journal of Muscle Research and Cell Motility, 2020

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Fox MD et al.

Human Molecular Genetics, 2018

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.

Amarasinghe C et al.

Biochemistry, 2016

TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.

Wei B et al.

Gene, 2016

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Abdulhaq UN et al.

Muscle & Nerve, 2016

Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T.

Mondal A et al.

Frontiers in Physiology, 2016

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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."