Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.D65A
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TNNT1

NM_003283.6:p.D65A

Associated Papers

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Holling T et al.

Human Mutation, 2022

Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.

van de Locht M et al.

International Journal of Molecular Sciences, 2021

Mutation of the high affinity calcium binding sites in cardiac troponin C.

Negele JC et al.

The Journal of Biological Chemistry, 1992

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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."