Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1357911.RAESkHzmYx2VzyK5akiLgRvq-VO24-ZwQGuG-MGHBnNi4#assertion> ?p ?o ?g. }
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- assertion description "[Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25652408 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.