Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion> ?p ?o ?g. }
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- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion type Assertion NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_head.
- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion description "[Although heterozygous mutations were associated with normal factor H levels and incomplete penetrance of the disease, the homozygous mutation in the Bedouin family resulted in severe reduction of factor H levels accompanied by very early disease onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_provenance.
- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion evidence source_evidence_literature NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_provenance.
- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion SIO_000772 11158219 NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_provenance.
- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion wasDerivedFrom befree-20150227 NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_provenance.
- NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_assertion wasGeneratedBy ECO_0000203 NP446536.RAzjtS7su6lLCY_KmnX6udEZ0Mrm7xDXpa6TPrLAbo3Lw130_provenance.