A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family
- PMID: 33578420
- DOI: 10.1093/brain/awaa357
A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.Brain. 2019 Sep 1;142(9):2605-2616. doi: 10.1093/brain/awz216. Brain. 2019. PMID: 31332438
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