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Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations

Jacopo Morini,Lucia Nacci,Gabriele Babini,Simone Cesaro,Roberto Valli,Andrea Ottolenghi,Elena Nicolis,Emily Pintani,Emanuela Maserati,Marco Cipolli,Cesare Danesino,Claudia Scotti,Antonella Minelli

British Journal of Haematology（2018）

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