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NG0597-88
NG0597-88
http://dx.doi.org/10.1038/NG0597-88
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
P356
Q24318956-69195C6E-DCA6-4EB1-9337-A51F4AF8C33B
P356
NG0597-88
http://dx.doi.org/10.1038/NG0597-88