Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.R184delins
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TNNT1

NM_003283.6:p.R184delins

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

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