Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion> ?p ?o ?g. }
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- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion type Assertion NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_head.
- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion wasGeneratedBy ECO_0000203 NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_provenance.
- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion wasDerivedFrom befree-20140225 NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_provenance.
- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion SIO_000772 17943323 NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_provenance.
- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion evidence source_evidence_literature NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_provenance.
- NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_assertion description "[Recently, mutations in the LAMB2 gene encoding laminin beta2 were described as the cause of Pierson syndrome, which is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP921041.RAh_EmfzYK9AdPSnq9KADN-FdRbNSMv0HokyQnZ0mOneQ130_provenance.