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Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
Human Genetics ( IF 3.8 ) Pub Date : 2020-09-09 , DOI: 10.1007/s00439-020-02224-5 Ahmed N Sahly 1, 2 , Eric Krochmalnek 3 , Judith St-Onge 3 , Myriam Srour 1, 3, 4 , Kenneth A Myers 1, 3, 4
中文翻译:
严重的DNM1脑病,由于复发的剪接位点致病变异而导致髓鞘异常。
更新日期:2020-09-09
Human Genetics ( IF 3.8 ) Pub Date : 2020-09-09 , DOI: 10.1007/s00439-020-02224-5 Ahmed N Sahly 1, 2 , Eric Krochmalnek 3 , Judith St-Onge 3 , Myriam Srour 1, 3, 4 , Kenneth A Myers 1, 3, 4
Affiliation
中文翻译:
严重的DNM1脑病,由于复发的剪接位点致病变异而导致髓鞘异常。