Gene table: search width pubmed_id = 8554065


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

protein
All allelic disease phenotypes - locus/disease symbols
Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR)
14.129
8554065
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3
* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN
* Charlevoix disease - SLC12A6
* Andermann syndrome - SLC12A6