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Table 2 Clinical and molecular findings of patient 1 and 2

From: Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

  Genotype Protein alteration Phenotype
Proband 1 DAND5 c.455GA DAND5 p.R152H Left isomerism; VSD with overriding aorta; Pulmonary atresia
Proband 2 DAND5 c.455GA DAND5 p.R152H Tetralogy of Fallot; Pulmonary atresia
  1. VSD – ventricular septal defect
  2. Wild type DAND5 refseq. - NM_152654.2