Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.R184P
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TNNT1

NM_003283.6:p.R184P

Associated Papers

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Segarra-Casas A et al.

Annals of Clinical and Translational Neurology, 2025

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

Laitila J et al.

The Journal of Physiology, 2025

Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.

Martín-Jiménez P et al.

Muscle & Nerve, 2022

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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."