Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.T118delFs
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TNNT1

NM_003283.6:p.T118delFs

Associated Papers

Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.

Wang G et al.

Journal of Human Genetics, 2023

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Zhang Y et al.

Bmc Pediatrics, 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."