Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.R125Splc
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TPM2

NM_003289.4:p.R125Splc

Associated Papers

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

Mroczek M et al.

Journal of Applied Genetics, 2017

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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."