Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion> ?p ?o ?g. }
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- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion type Assertion NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_head.
- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion wasGeneratedBy ECO_0000203 NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_provenance.
- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion wasDerivedFrom befree-2016 NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_provenance.
- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion SIO_000772 10978357 NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_provenance.
- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion evidence source_evidence_literature NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_provenance.
- NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_assertion description "[Mutations in RET and in two members of the GDNF ligand family are associated with Hirschsprung disease (HSCR), a congenital absence of the enteric ganglia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294453.RAng1scRarKebaLUBg-o5F_ZGpNDunnmzLQjiC20syI4E130_provenance.