Hypothesis

2 Matching Annotations

Aug 2019
www.cell.com www.cell.com

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

2
1. megan_mayers 12 Aug 2019
  
  in Public
  
  Lumbar gibbus
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:4 gene:EXTL3
2. megan_mayers 12 Aug 2019
  
  in Public
  
  Lumbar gibbus
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:3 gene:EXTL3
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Tags

monarchLookup

family:4

gene:EXTL3

HP:0008454

family:3

ClinGen

hpoLookup

phenotype:family

Annotators

megan_mayers

URL

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