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publicationName Clinica chimica acta; international journal of clinical chemistry
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bibliographicCitation Cossu C, Incani F, Serra ML, Coiana A, Crisponi G, Boccone L, Rosatelli MC. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clin Chim Acta. 2016 Apr 01;455():172–80. doi: 10.1016/j.cca.2016.02.006. PMID: 26874042.
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title New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
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