6 Matching Annotations
  1. Jun 2018
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
    5
    1. cthaxton 27 Jun 2018
      heart murmur

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148

      ClinGen hpoLookup monarchLookup gene:TMEM260
    2. cthaxton 27 Jun 2018
      cyanosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961

      ClinGen hpoLookup monarchLookup gene:TMEM260
    3. cthaxton 27 Jun 2018
      pulmonary venous return

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772

      ClinGen hpoLookup monarchLookup gene:TMEM260
    4. cthaxton 27 Jun 2018
      truncus arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660

      ClinGen hpoLookup monarchLookup gene:TMEM260
    5. cthaxton 27 Jun 2018
      TMEM260
      ClinGen gene:TMEM260 pmid:28318500 doi:10.1016/j.ajhg.2017.02.007
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    ncbi.nlm.nih.gov/pmc/articles/PMC5384036/