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PubMed (cited) for id: 616176

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Mutation in GNE is associated with severe congenital thrombocytopenia.
Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group. Futterer J, et al. Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25. Blood. 2018. PMID: 29941673 Free PMC article. No abstract available.
A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H. Manchev VT, et al. Blood. 2014 Oct 16;124(16):2554-63. doi: 10.1182/blood-2014-01-551820. Epub 2014 Jul 24. Blood. 2014. PMID: 25061177 Free PMC article.