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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease congenital disorders of glycosylation
Comorbidity C0282577|carbohydrate-deficient glycoprotein syndrome
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PubMedID- 20428984 Furthermore, patients with the autosomal recessive disease carbohydrate-deficient glycoprotein syndrome type ii have been shown to have mutations in mgat2 (tan et al.

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