Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- befree-2016 importedOn "2016-02-19" NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_assertion wasGeneratedBy ECO_0000203 NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_assertion wasDerivedFrom befree-2016 NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_assertion SIO_000772 11565064 NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_assertion evidence source_evidence_literature NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.
- NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_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." NP330733.RAq3z7dwIuS8K-HYnqPO8gtM1KR3R99C8AZ6DQHKt-M8I130_provenance.