Varaico: Literature-Extracted Genetic Variants

Gene:TNNC2
Variant:p.R105Splc
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TNNC2

NM_003279.3:p.R105Splc

Associated Papers

Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant.

Maino A et al.

Journal of Neuromuscular Diseases, 2025

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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."