2 Matching Annotations
  1. Nov 2019
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    2
    1. mjairath 19 Nov 2019
      hypertrophy of slow fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
    2. mjairath 19 Nov 2019
      hypertrophy of Type 1 (slow) fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/