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This page is a summary of: 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, September 2018, Wiley,
DOI: 10.1111/bjh.15594.
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