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Human Disease

Joubert syndrome 20

Term ID
DOID:0110989
Synonyms
  • JBTS20
Definition
A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/23012439
References
Ontology
Human Disease   ( DOID:0110989 )
Relationships
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Genes Involved
Zebrafish Models