Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion> ?p ?o ?g. }
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- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion type Assertion NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_head.
- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion description "[A heterozygous G-to-A mutation at position 3823 (D1275N) in a highly conserved residue of exon 21 is associated with an autosomal dominant cardiac conduction disorder, sinus node dysfunction, arrhythmia, ventricular dilatation & dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_provenance.
- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion evidence source_evidence_literature NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_provenance.
- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion SIO_000772 15466643 NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_provenance.
- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion wasDerivedFrom lhgdn-20090331 NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_provenance.
- NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_assertion wasGeneratedBy ECO_0000203 NP143728.RAdj4412S3Q1H3K7jQyfbPBDcCkXaF46gpArD4vFgrX0U130_provenance.