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Q51177425-20F1FD49-65DC-49D8-8812-22A3154801A5
Q51177425-20F1FD49-65DC-49D8-8812-22A3154801A5
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Statement
http://www.wikidata.org/entity/statement/Q51177425-20F1FD49-65DC-49D8-8812-22A3154801A5
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
P407
Q51177425-20F1FD49-65DC-49D8-8812-22A3154801A5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51177425-20F1FD49-65DC-49D8-8812-22A3154801A5
rank
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type
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P407
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