Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion type Assertion NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_head.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion wasGeneratedBy ECO_0000203 NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion wasDerivedFrom befree-20140225 NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion SIO_000772 7977366 NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion evidence source_evidence_literature NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_assertion description "[We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.