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Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

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Description scientific journal article
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author: Johannes Aerts  Pramod K Mistry  Ruhua Yang  Gregory M Pastores  Judy H. Cho  Peter K. Gregersen 

Publication date March 3, 2012
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