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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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Vilnius University Press
2013-05-01
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| Schriftenreihe: | Acta Medica Lituanica |
| Schlagworte: | |
| Online-Zugang: | https://www.journals.vu.lt/AML/article/view/21517 |
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