Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion> ?p ?o ?g. }
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- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion type Assertion NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_head.
- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion wasGeneratedBy ECO_0000203 NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_provenance.
- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion wasDerivedFrom befree-20150227 NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_provenance.
- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion SIO_000772 9915944 NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_provenance.
- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion evidence source_evidence_literature NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_provenance.
- NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_assertion description "[Deletions encompassing the 5' termini of the paired type IV collagen genes COL4A5 and COL4A6 on chromosome Xq22 give rise to Alport syndrome (AS) and associated diffuse leiomyomatosis (DL), a syndrome of disseminated smooth-muscle tumors involving the esophagus, large airways, and female reproductive tract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320119.RACPjlyuRwPXAkXsE8yi81h9z1LuBhePaG-p0cKP6S3DM130_provenance.