Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion> ?p ?o ?g. }
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- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion type Assertion NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_head.
- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion description "[Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_provenance.
- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion evidence source_evidence_curated NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_provenance.
- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion SIO_000772 12189163 NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_provenance.
- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion wasDerivedFrom ctd_human-2016 NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_provenance.
- NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_assertion wasGeneratedBy ECO_0000218 NP12199.RAkuLux5KGseHmM53Bs7tatjeqoZDha9jwx846TpOsAoI130_provenance.