4 Matching Annotations
  1. Jun 2018
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223094/
    3
    1. cthaxton 29 Jun 2018
      chronic otitis media,

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000389

      ClinGen hpoLookup monarchLookup gene:PIH1D3
    2. cthaxton 29 Jun 2018
      chronic sinusitis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011109

      ClinGen hpoLookup monarchLookup gene:PIH1D3
    3. cthaxton 29 Jun 2018
      PIH1D3
      ClinGen gene:PIH1D3 pmid:28041644 doi:10.1016/j.ajhg.2016.11.019
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    ncbi.nlm.nih.gov/pmc/articles/PMC5223094/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
    1
    1. cthaxton 29 Jun 2018
      PIH1D3
      ClinGen gene:PIH1D3 pmid:28176794 doi:10.1038/ncomms14279
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    ncbi.nlm.nih.gov/pmc/articles/PMC5309803/