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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17431882 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.