Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion> ?p ?o ?g. }
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- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion type Assertion NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_head.
- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion wasGeneratedBy ECO_0000203 NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_provenance.
- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion wasDerivedFrom befree-20150227 NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_provenance.
- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion SIO_000772 20130826 NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_provenance.
- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion evidence source_evidence_literature NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_provenance.
- NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_assertion description "[Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic megacolon or Hirschsprung disease (HSCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708949.RAbG7kIVyDV6777u3rS0cyyL0fbmLQ0y0hNp9NBhOJsmo130_provenance.