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Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
Sorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and...
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| Publicado no: | NPJ Genom Med |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7782788/ https://ncbi.nlm.nih.gov/pubmed/33397963 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00165-6 |
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