Varaico: Literature-Extracted Genetic Variants

Gene:NPEPPS
Variant:p.K304Q
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NPEPPS

NM_006310.4:p.K304Q

Associated Papers

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

Smith PM et al.

Human Molecular Genetics, 2014

24092330 (PubMed )
Supplement: supp_ddt490_ddt490supp_table1.pdf
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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."