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Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation

Description
Platforms
dbGaP
View in dbGaP
Summary
Consent CodesGRU
Focus / DiseasesCongenital Disorders of Glycosylation
Study DesignFamily/Twin/Trios
Data TypesSNP Genotypes (NGS)
Subjects8