Hypothesis

4 Matching Annotations

Aug 2019
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

4
1. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:5 gene:EXTL3
2. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:4 gene:EXTL3
3. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:3 gene:EXTL3
4. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
Visit annotations in context

Tags

family:1

HP:0003498

monarchLookup

family:4

family:5

gene:EXTL3

family:3

ClinGen

hpoLookup

phenotype:family

Annotators

megan_mayers

URL

cell.com/ajhg/fulltext/S0002-9297(17)30013-7