Pathogenic genetic variants | Frontiers in Congenital Disorders of Glycosylation

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Mistake in the DNA code in a specific gene. This used to be called a mutation.

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The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is a previously funded research group of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). FCDGC received funding under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS). This website is hosted by the network's Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and NINDS under grant number TR002818. The content of this website is solely the responsibility of the FCDGC administrative coordinating center at Icahn School of Medicine at Mount Sinai, New York, and does not necessarily represent the official views of the NIH.