Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion> ?p ?o ?g. }
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- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion type Assertion NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_head.
- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion wasGeneratedBy ECO_0000203 NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_provenance.
- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion wasDerivedFrom befree-20140225 NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_provenance.
- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion SIO_000772 17943323 NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_provenance.
- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_assertion evidence source_evidence_literature NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_provenance.
- NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_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." NP484552.RAZqHaZ2ZzG9UMGLVX-C2YC0TV0XYBUNF0i47C3QMjxEE130_provenance.