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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Author(s): Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marque ...

Blood. 2014 Oct 30;124(18):2867-71 Authors: Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, ...

Article GUID: 25193871


Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons.

Author(s): McGuire AL, Majumder MA, Villanueva AG, Bardill J, Bollinger JM, Boerwinkle E, Bubela T, Deverka PA, Evans BJ, Garrison NA, Glazer D, Goldstein MM, Greely HT, Kahn SD, Knoppers BM, Koenig BA, Lambright JM, Mattison JE, O'Donnell C, R ...

J Law Med Ethics. 2019 Mar;47(1):12-20 Authors: McGuire AL, Majumder MA, Villanueva AG, Bardill J, Bollinger JM, Boerwinkle E, Bubela T, Deverka PA, Evans BJ, Garrison NA, Glazer D, Goldstein MM, Greely HT, Kahn SD, Knoppers BM, Koenig BA, Lambright JM, Mattison JE, O'Donnell C, Rai AK, Rodr ...

Article GUID: 30994067


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