Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion> ?p ?o ?g. }
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- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion type Assertion NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_head.
- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion wasGeneratedBy ECO_0000203 NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_provenance.
- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion wasDerivedFrom befree-2016 NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_provenance.
- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion SIO_000772 20130826 NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_provenance.
- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_assertion evidence source_evidence_literature NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_provenance.
- NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_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." NP791722.RAOk6AmLVq3qivwtl8-6LDgvxH5NY_n4n84tSTRsRZlIk130_provenance.