Newborn screening of cystinosis in Germany
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA564496
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资源简介：
For routine newborn screening (NBS) of nephropathic cystinosis, a rare hereditary disease, we developed a novel two-tiered genetic approach by screening for the most common mutations by qPCR followed by next-generation sequencing as a second tier test to detect rare variants.
创建时间：
2019-09-09
