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Human Disease

Charcot-Marie-Tooth disease type 4B3

Term ID
DOID:0110194
Synonyms
  • CMT4B3
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. https://www.ncbi.nlm.nih.gov/pubmed/23749797
References
Ontology
Human Disease   ( DOID:0110194 )
Relationships
is a type of
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Genes Involved
Zebrafish Models