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ALG6
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Structure and mechanism of the ER-based glucosyltransferase ALG6.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional ev…
Novel Genetic Variants of ALG6 and GALNTL4 of the Glycosylation Pathway Predict Cutaneous Melanoma-S…
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmenta…
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Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
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