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HARVARD Citation
Morini, J. et al. (2019). Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations. British journal of haematology. pp. 627-630. [Online].