Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_assertion wasGeneratedBy ECO_0000203 NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_assertion wasDerivedFrom befree-20140225 NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_assertion SIO_000772 21091464 NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_assertion evidence source_evidence_literature NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_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." NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP784524.RAXktIaT8yZAEQaHJgQziWi3UsQRdLMiPmjSjMCJ4E4YE130_provenance.