Varaico: Literature-Extracted Genetic Variants

Gene:SLC28A1
Variant:p.R561Q
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SLC28A1

NM_004213.5:p.R561Q

Associated Papers

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Pérez-Torras S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

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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."