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

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The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.

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