Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion> ?p ?o ?g. }
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- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion type Assertion NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_head.
- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_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." NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_provenance.
- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion evidence source_evidence_literature NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_provenance.
- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion SIO_000772 15466643 NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_provenance.
- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion wasDerivedFrom lhgdn-20090331 NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_provenance.
- NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_assertion wasGeneratedBy ECO_0000203 NP207157.RAg49MmFvzWavAk-YUXS4Z5oGZ2U-T970z6H29Vt-I6S8130_provenance.