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Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 6...
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| Publicado no: | Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7406531/ https://ncbi.nlm.nih.gov/pubmed/32248360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02156-0 |
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