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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of gen...
Autores principales: | Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E., Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M., Campeau, Philippe M., Bellen, Hugo J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Genetics Society of America
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586389/ https://www.ncbi.nlm.nih.gov/pubmed/28874452 http://dx.doi.org/10.1534/genetics.117.203067 |
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