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A novel, pathogenic COL4A1 missense variant involving thrombotic microangiopathic leukoencephalopathy in a neonate.
Journal of Neuropathology and Experimental Neurology ( IF 3.2 ) Pub Date : 2023-09-20 , DOI: 10.1093/jnen/nlad057 Lorraina J Robinson 1 , Duncan Sudarshan 1 , Eric Goold 1 , Jessica Comstock 1 , Joshua Klonoski 1 , Qinwen Mao 1 , Cheryl A Palmer 1 , Christian Davidson 1
中文翻译：
一种新型致病性 COL4A1 错义变异，涉及新生儿血栓性微血管病性白质脑病。
更新日期：2023-09-20
Journal of Neuropathology and Experimental Neurology ( IF 3.2 ) Pub Date : 2023-09-20 , DOI: 10.1093/jnen/nlad057 Lorraina J Robinson 1 , Duncan Sudarshan 1 , Eric Goold 1 , Jessica Comstock 1 , Joshua Klonoski 1 , Qinwen Mao 1 , Cheryl A Palmer 1 , Christian Davidson 1
Affiliation
中文翻译：
一种新型致病性 COL4A1 错义变异，涉及新生儿血栓性微血管病性白质脑病。
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