A Novel, Possibly Pathogenic, COL4A1 Gene Variant (c.3698G>A) in a Family With Childhood Epilepsy and Leukoencephalopathy

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DOI:10.7759/cureus.48553
文献类型：期刊论文
补充材料：只需要正文
文献链接：https://doi.org/10.7759/cureus.48553

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Abstract：This case report explores the clinical presentation and genetic findings of a 44-year-old male with a history of pediatric epilepsy. The patient's daughter, recently diagnosed with autism, u

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