Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion> ?p ?o ?g. }
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- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion type Assertion NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_head.
- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_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." NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_provenance.
- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion evidence source_evidence_curated NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_provenance.
- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion SIO_000772 23065719 NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_provenance.
- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion wasDerivedFrom uniprot-20150221 NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_provenance.
- NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_assertion wasGeneratedBy ECO_0000218 NP592.RAq6ZmbqQXwty3Bp-b5Wf94pSr76R0KoWO6sXKEeHKIhM130_provenance.