Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion> ?p ?o ?g. }
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- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion type Assertion NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_head.
- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion description "[A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_provenance.
- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion evidence source_evidence_literature NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_provenance.
- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion SIO_000772 23065719 NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_provenance.
- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion wasDerivedFrom befree-2016 NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_provenance.
- NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_assertion wasGeneratedBy ECO_0000203 NP1021080.RAF5krSyFlLFB06N1kro7CEaobh77E2V08-3vYusE8zOc130_provenance.