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Carbohydrate-deficient glycoprotein syndrome type 2

✍ Scribed by H. Engelhardt; M. Staudt; A. Hässler; U. Holzbach; P. Freisinger; I. Krägeloh-mann

No coin nor oath required. For personal study only.

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Mutations in PMM2, a phosphomannomutase

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Absence of homozygosity for predominant

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Corrigendum: Mutations in PMM2, a phosph

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