Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion> ?p ?o ?g. }
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- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion type Assertion NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_head.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion description "[A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion evidence source_evidence_curated NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion SIO_000772 11139257 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion wasDerivedFrom uniprot-20130724 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion wasGeneratedBy ECO_0000218 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.