Homo sapiens Genome sequencing and assembly
收藏NIAID Data Ecosystem2026-05-01 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP496621
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资源简介：
The patient had compound heterozygous variants in the PI4KA gene, c.4076T>G (p.Leu1359Arg); c.6082C>T (p.Arg2028Trp). Sanger sequencing verified that the variants were derived from the father (c.4076T>G) and the mother c.6082C>T. This variant locus has not been reported in the literature
创建时间：
2024-03-20
