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
  
  selective and marked atrophy of Type 2 (fast) fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
  
  ClinGen hpoLookup monarchLookup HP:0003554 hpoLookup:individual individual:1 gene:TNNT3
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gene:TNNT3

hpoLookup

individual:1

monarchLookup

ClinGen

HP:0003554

hpoLookup:individual

Annotators

mjairath

URL

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