Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion> ?p ?o ?g. }
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- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion type Assertion NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_head.
- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion wasGeneratedBy ECO_0000203 NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_provenance.
- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion wasDerivedFrom befree-20140225 NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_provenance.
- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion SIO_000772 21236492 NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_provenance.
- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion evidence source_evidence_literature NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_provenance.
- NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_assertion description "[To describe a novel laminin β-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620789.RAx3z7NWbsb_6HUMKHAT-60KlJOr8W5eOc2EKTaSEdhSY130_provenance.