A Chinese proband sequencing
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA638223
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资源简介：
A Chinese Han pedigree with HLCS deficiency diagnosed using next-generation sequencing.The Chinese proband carries a reported Arg508Trp variant, a novel 2-bp frameshift mutation c.1006_1007delGA (p.Glu336Thr) of HLCS gene.
创建时间：
2020-06-09
