Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion> ?p ?o ?g. }
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- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion type Assertion NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_head.
- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion description "[This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_provenance.
- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion evidence source_evidence_literature NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_provenance.
- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion SIO_000772 23356391 NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_provenance.
- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion wasDerivedFrom befree-2016 NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_provenance.
- NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_assertion wasGeneratedBy ECO_0000203 NP1047752.RASxPi7bktuSlol0Ip6zuWZ70hYhFot_FqEZ1HNZYyQ4s130_provenance.