Clinical and Molecular Characterization of ALG1-CDG
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected i...
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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
2016-04-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/1687 |