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

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Description scientific article published in May 2014
Author/s

author: Kenji Kabashima  Masayuki Amagai 

Publication date May 1, 2014
Language English
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