Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.R204Splc
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TNNT1

NM_001126132.3:p.R204Splc

Associated Papers

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Laarne M et al.

Journal of Neuromuscular Diseases, 2025

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