Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3
Variant:p.E23Splc
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TNNT3

NM_006757.4:p.E23Splc

Associated Papers

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Müller JS et al.

Neuromuscular Disorders : Nmd, 2025

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