Gene table: search width pubmed_id = 29277257


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Charcot-Marie-Tooth disease, axonal; related to SACS - (AR)
14.100
29277257
SACS (13q12)
Sacsin
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS
* Charcot-Marie-Tooth disease, axonal; related to SACS
* Spastic ataxia, Charlevoix-Saguenay type - SACS
* Spastic ataxia Charlevoix-Saguenay type - SPAX6