Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion type Assertion NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_head.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion description "[The 5T allele of the polyT tract located within intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a variant that in trans with a severe CFTR mutation can result in normal phenotype, congenital bilateral absence of vas deferens (CBAVD), or mild cystic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_provenance.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion evidence source_evidence_literature NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_provenance.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion SIO_000772 17234733 NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_provenance.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion wasDerivedFrom befree-2016 NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_provenance.
- NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_assertion wasGeneratedBy ECO_0000203 NP589451.RAF9PX2MDqXcUDoUYE-mSqwd-ahSK0DWwDb8oGr1yihVQ130_provenance.