Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases
A rare disease is any disease that affects a small percentage of the population. In the European Union a disease is defined as rare if it affects less than 1 in 2,000 people. Despite a small percentage of affected people by one disease, the total number of rare diseases is estimated to be around 7,0...
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| Publicado no: | Acta medica Lituanica |
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| Principais autores: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Vilniaus Universitetas
2013
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| Assuntos: | |
| Acesso em linha: | https://www.redalyc.org/articulo.oa?id=694074053003 |
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