First Case Report of Cerebral Folate Deficiency Caused by a Novel Mutation of FOLR1 gene in a Chinese Patient
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP289452
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资源简介：
One novel variation of FOLR1 was firstly identified from a Chinese male patient with tonic-clonic seizures, developmental delay, and ataxia. The WES and laboratory results elucidated the etiology of the symptoms. Clinical outcomes were improved by early diagnosis and proper treatment.
创建时间：
2020-11-06
