ACADVL variants in Chinese patient
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1108029
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资源简介：
To report the clinical, genetic and functional findings of variants in ACADVL gene in Chinese VLCADD patient.The patient presented severe neonatal-onset clinical features. Analysis of ACADVL gene showed that in patient 1, there was a compound heterozygous mutation of one novel missense variant (p.Met352Thr) and one synonymous variant (p.Ser423=). We evaluate the variants in ACADVL gene structurally and functionally.
创建时间：
2024-05-06
