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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...

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...

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, Goldst...

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, ...

Article GUID: 30994067