Identification of a novel deletion on FXN gene
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https://www.omicsdi.org/dataset/eva/PRJEB65722
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资源简介：
We report a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5?UTR upstream region and exons 1 and 2 of FXN gene.
创建时间：
2023-09-03
