Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_assertion wasGeneratedBy ECO_0000203 NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_assertion wasDerivedFrom befree-20140225 NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_assertion SIO_000772 24001744 NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_assertion evidence source_evidence_literature NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_assertion description "[Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some children with idiopathic short stature (ISS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP375585.RAMuWRlgXR4XYhrotaQG090zFV6AFR2ttWfH6MzldS6vM130_provenance.