Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion> ?p ?o ?g. }
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- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion type Assertion NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_head.
- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion wasGeneratedBy ECO_0000203 NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_provenance.
- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion wasDerivedFrom lhgdn-20090331 NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_provenance.
- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion SIO_000772 16550584 NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_provenance.
- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion evidence source_evidence_literature NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_provenance.
- NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_assertion description "[Missense mutations within a defined region are associated with dominant low-frequency hearing loss (DFNA6/14/38), while more severe mutations spanning WFS1 are found in Wolfram syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP216202.RAmzxERchk6FHy27AnIKB_1RMowkI2j5AZRQQvi8SZetc130_provenance.