Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion> ?p ?o ?g. }
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- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion type Assertion NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_head.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_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." NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion evidence source_evidence_literature NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion SIO_000772 23065719 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion wasDerivedFrom befree-20140225 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion wasGeneratedBy ECO_0000203 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.