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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19762329 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.