Homo sapiens Raw sequence reads
收藏NIAID Data Ecosystem2026-03-14 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP403796
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资源简介：
A male patient was admitted for bilateral leg tremor while standing. Blood screening showed a phenylalanine/tyrosine ratio of 2.06. Whole-exome sequencing confirmed the presence of a compound heterozygous mutation, in phenylalanine hydroxylase gene. After three months of levodopa tablets and a low-phenylalanine diet treatment, the tremor disappeared.
创建时间：
2022-10-21
