Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_assertion wasGeneratedBy ECO_0000203 NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_assertion wasDerivedFrom befree-20150227 NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_assertion SIO_000772 21091464 NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_assertion evidence source_evidence_literature NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.
- NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_assertion description "[We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP972782.RAyAGTS44S2Ghu0hVfF2PQTNXEP9Cp25bG2ses0RMQSjU130_provenance.