A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77
Abstract FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense variant and Alu‐mediated exon 5 deleti...
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| Автори: | , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wiley
2024-11-01
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| Серія: | Annals of Clinical and Translational Neurology |
| Онлайн доступ: | https://doi.org/10.1002/acn3.52195 |
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