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  1. Mar 2021
  2. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    1
    1. shannon_mcnulty 18 Mar 2021
      Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1).

      Gene: SCN5A

      Disease: Brugada syndrome

      MONDO: MONDO:0011001

      InheritancePattern: Autosomal dominant

      CGType:GeneticCondition Gene:SCN5A HGNC:10593 MONDO:0011001 HP:0000006
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    cell.com/ajhg/fulltext/S0002-9297(20)30162-2