Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions
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| Description | scientific article published on 18 July 2020 |
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author: Ingrid Scheffer Undiagnosed Diseases Network Deborah A Nickerson Bobby G Ng Jennefer N Kohler |
| Publication date | July 18, 2020 |
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| Missing/wrong data? | Edit Wikidata item |