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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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Phenotypical expression of mutation R227X exon 5 of the GLA gene (nucleotide change p.Arg227X c.608C > T) identified in a large UK kindred spanning eight generations in a well-documented family pedigree

L Richfield, Robert D Bruce,R J Baker,S Goodwin, A B Holmes,D A Hughes,Andrew J Milligan,A Mehta

ACTA PAEDIATRICA（2006）

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gla gene,mutation r227x exon,family pedigree,well-documented
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