Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_assertion description "[Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_assertion evidence source_evidence_literature NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_assertion SIO_000772 17257873 NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_assertion wasDerivedFrom befree-20140225 NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_assertion wasGeneratedBy ECO_0000203 NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP873256.RAYVr0wwrRVvYsJha1pEtOah9DD4kK5i9mb6z0v5WkvGw130_provenance.