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Genetic ataxia gene detection in a family by using second generation sequencing

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下载链接:
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA449264
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By examining the common mutations of three patients in a family to diagnose diseases, and provide genetic counseling(such as the potential risk of offspring and reproductive decisions) for young family members. At the same time, early diagnosis is good for early targeted treatment intervention and delay disease progression.
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2018-04-09
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