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A RaDiCAL gene hunt
In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease C...
Autores principales: | Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taibah University
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694981/ https://www.ncbi.nlm.nih.gov/pubmed/31435239 http://dx.doi.org/10.1016/j.jtumed.2016.11.007 |
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