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J-GLOBAL ID:201302276250579950   Reference number:13A0019367

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Exomeシークエンシングは表現型的に別個でX染色体優性型のNBIAを引き起こすDe Novo WDR45突然変異を明らかにする
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Volume: 91  Issue:Page: 1144-1149  Publication year: Dec. 07, 2012 
JST Material Number: B0360B  ISSN: 0002-9297  Document type: Article
Country of issue: Netherlands (NLD)  Language: ENGLISH (EN)
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