Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_assertion description "[Homozygosity for a common mutation (1549C-->GAA, or 121ins2) of the SP-B-encoding gene (SFTPB) results in rapidly fatal respiratory failure, with complete absence of the mRNA and protein observed in lung fluid or biopsy specimens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_assertion evidence source_evidence_literature NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_assertion SIO_000772 10571948 NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_assertion wasDerivedFrom befree-2016 NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_assertion wasGeneratedBy ECO_0000203 NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.
- befree-2016 importedOn "2016-02-19" NP268302.RAe5YTMuySOCohCoeA5jGk9HAkkxGD4ibVCxtatx15iVA130_provenance.