Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion type Assertion NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_head.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_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." NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_provenance.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion evidence source_evidence_literature NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_provenance.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion SIO_000772 23065719 NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_provenance.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion wasDerivedFrom befree-20150227 NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_provenance.
- NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_assertion wasGeneratedBy ECO_0000203 NP811439.RAs5W8zEqj8-Km3bu8m4zGAVrmW20FgN4ZRBOCWUbmwxQ130_provenance.