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- source_evidence_literature type ECO_0000212 NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP582234.RAXoJEN7hRrGnrTwh7fHNJ9gr11r1kkOPF-ci_XA2EPAg130_provenance.