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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19211642 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.