Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion description "[Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion evidence source_evidence_literature NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion SIO_000772 9115626 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion wasDerivedFrom befree-20140225 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion wasGeneratedBy ECO_0000203 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.