Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP939918.RAzjFn0QroLP6ljVpnpll_EWHzsiItO6hD37xOERjLfiQ#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10571948 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.