Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion> ?p ?o ?g. }
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- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion type Assertion NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_head.
- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion description "[This study provides the first evidence for a homozygous missense mutation in SCN5A and suggests that LQTS with functional 2:1 AVB in young children, a severe phenotype associated with bad prognosis, may be caused by homozygous or heterozygous compound mutations not only in HERG but also in SCN5A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_provenance.
- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion evidence source_evidence_literature NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_provenance.
- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion SIO_000772 11463728 NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_provenance.
- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion wasDerivedFrom befree-20150227 NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_provenance.
- NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_assertion wasGeneratedBy ECO_0000203 NP521727.RA0WjPBZqdgWGUpgUHfz00kFfkpC3iiyN6kI0c3-I6yyk130_provenance.