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First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.
Magnusson, Tylan; Godby, Richard C; Bachiashvili, Kimo; Jamy, Omer.
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  • Magnusson T; Division of General Internal Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Godby RC; Division of General Internal Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Bachiashvili K; Division of Hematology Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Jamy O; Division of Hematology Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Br J Haematol ; 196(4): e27-e29, 2022 02.
Article in En | MEDLINE | ID: mdl-34649303
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Full text: 1 Database: MEDLINE Main subject: Dyskeratosis Congenita Type of study: Risk_factors_studies Limits: Adult / Humans / Male Language: En Journal: Br J Haematol Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Dyskeratosis Congenita Type of study: Risk_factors_studies Limits: Adult / Humans / Male Language: En Journal: Br J Haematol Year: 2022 Type: Article Affiliation country: United States