FCDGC: MAN2A2 Enzyme Variant Causes New Type of Congenital Disorder of Glycosylation
5 de dic. de 2022 ·
1m 56s
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Descripción
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Medical Genetics on November 10, 2022,...
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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 Medical Genetics on November 10, 2022, titled "Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement."
Read the paper here: https://jmg.bmj.com/content/early/2022/11/10/jmg-2022-108821
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
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Read the paper here: https://jmg.bmj.com/content/early/2022/11/10/jmg-2022-108821
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
Información
| Autor | RDCRN |
| Organización | RDCRN |
| Página web | - |
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