Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.A286fs
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SLCO2A1

NM_005630.3:p.A286fs

Associated Papers

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.

Niizeki H et al.

The British Journal of Dermatology, 2014

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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."