FCDGC: Studying Variants of CAD Deficiency to Improve Diagnosis
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17 de oct. de 2023 ·
1m 23s
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on August 4,...
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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on August 4, 2023, titled "Beyond genetics: Deciphering the impact of missense variants in CAD deficiency."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12667
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
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Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12667
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
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| Autor | RDCRN |
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