Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1468342.RAio06v2zO9x6O2bckPGGTQfRzY9Mqs2Sa2hkxdQ5jDwA#assertion> ?p ?o ?g. }
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- assertion description "[We found that a mutation previously described by Sebastio et al., involving a 68-bp insertion in the coding region of exon 8 of the cystathionine-beta-synthase (CBS) gene in a single patient with homocystinuria, is highly prevalent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 8940271 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.