INC: Expanding the Phenotype of Peroxisome Biogenesis Disorders by Uncovering a New Genetic Variant
25 de sep. de 2024 ·
1m 43s
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Descripción
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on August 2, 2024, titled "Extended Phenotype...
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New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on August 2, 2024, titled "Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.14178
Learn more about INC: https://inc.rarediseasesnetwork.org
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Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.14178
Learn more about INC: https://inc.rarediseasesnetwork.org
Información
| Autor | RDCRN |
| Organización | RDCRN |
| Página web | - |
| Etiquetas |
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