Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1347328.RASekj_7cLfdc9-hvlete6lEBNSlvtVoaqe0znLw-EIis#assertion> ?p ?o ?g. }
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- assertion description "[Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23585356 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.