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Whole‐exome sequencing for variant discovery in blepharospasm
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplet...
Gardado en:
| Publicado en: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6081235/ https://ncbi.nlm.nih.gov/pubmed/29770609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.411 |
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