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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11565064 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.