Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion type Assertion NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_head.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion wasGeneratedBy ECO_0000203 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion wasDerivedFrom befree-20140225 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion SIO_000772 17943323 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion evidence source_evidence_literature NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_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." NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.