Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.R174Q
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TNNI1

NM_003281.4:p.R174Q

Associated Papers

Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.

Han D et al.

Animal Cells and Systems, 2025

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Donkervoort S et al.

Science Translational Medicine, 2024

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.

Nishimori Y et al.

Neurology. Genetics, 2022

Troponin through the looking-glass: emerging roles beyond regulation of striated muscle contraction.

Johnston JR et al.

Oncotarget, 2018

29416706 (PubMed )
Supplement: oncotarget-09-1461-s001.pdf

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Sung SS et al.

American Journal of Human Genetics, 2003

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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."