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Human Disease

Joubert syndrome 13

Term ID
DOID:0110982
Synonyms
  • JBTS13
Definition
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21725307
References
Ontology
Human Disease   ( DOID:0110982 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models