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Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
BACKGROUND: Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heter...
| Autores principales: | , , , |
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| 格式: | Online Artículo Texto |
| 語言: | English |
| 出版: |
BioMed Central
2023
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| 主題: | |
| 在線閱讀: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548615/ https://www.ncbi.nlm.nih.gov/pubmed/37794323 http://dx.doi.org/10.1186/s12883-023-03398-x |