Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion description "[A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion evidence source_evidence_literature NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion SIO_000772 21356074 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion wasDerivedFrom befree-20140225 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion wasGeneratedBy ECO_0000203 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.