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De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
BACKGROUND: Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in W...
Kaydedildi:
| Yayımlandı: | Mol Genet Genomic Med |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7667327/ https://ncbi.nlm.nih.gov/pubmed/33037762 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1499 |
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