Hypothesis

1 Matching Annotations

Nov 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

1
1. mjairath 19 Nov 2019
  
  in Public
  
  non-invasive ventilation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
  
  ClinGen hpoLookup monarchLookup HP%3A0004887 hpoLookup:individual individual:1 gene:TNNT3
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gene:TNNT3

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HP%3A0004887

individual:1

hpoLookup:individual

monarchLookup

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Annotators

mjairath

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5805634/