Varaico: Literature-Extracted Genetic Variants

Gene:SRPK3
Variant:p.G468*
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SRPK3

NM_014370.4:p.G468*

Associated Papers

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.

Pelin K et al.

Journal of Neuromuscular Diseases, 2023

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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."