Hypothesis

2 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

2
1. mjairath 19 Nov 2019
  
  in Public
  
  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
  
  in Public
  
  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
Visit annotations in context

Tags

hpoLookup:individual

monarchLookup

gene:TNNT3

ClinGen

individual:1

hpoLookup

HP%3A0100293

Annotators

mjairath

URL

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