COG7

Publications

Medrano C et al. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. Clin Genet. 2019; 95(5): 615-26. PMID: 30653653.

Ng BG et al. Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab. 2007; 91(2): 201-4. PMID: 17395513.

Wu X et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med. 2004; 10(5): 518-23. PMID: 15107842.

Zeevaert R et al. A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet. 2009; 52(5): 303-5. PMID: 19577670.

Zhao Y et al. Congenital myasthenic syndrome in China: genetic and myopathological characterization. Ann Clin Transl Neurol. 2021; 8(4): 898-907. PMID: 33756069.