RS80338794 SLC17A5
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What This Variant Does
"rs80338794, also known as R39C or Arg39Cys, is a rare mutation in the sialin protein SLC17A5 gene le...
Associated Conditions
Salla disease
Sialic acid storage disease
severe infantile type
Salla disease
Sialic acid storage disease
severe infantile type
Other Variants in SLC17A5