Gene table: search width pubmed_id = 15108122


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

protein
All allelic disease phenotypes - locus/disease symbols
Myopathy, lactic acidosis, and sideroblastic anemia 1 - (AR)
16.61
15108122
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1