Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

Talia Akram, Ambrin Fatima, Joakim Klar, Jan Hoeber, Muhammad Zakaria, Muhammad Tariq, Shahid M. Baig, Jens Schuster, Niklas Dahl

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5 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology