A family of HUPRA syndrome
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA914303
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资源简介：
We identified a novel variant of SARS2 gene that causes HUPRA syndrome. Whole-exome sequencing revealed novel compound heterozygous variants of SARS2 gene (c.1205G>A (p.Arg402His) and c.680G>A (p.Arg227Gln)). Computational prediction confirmed that c.680G>A was a novel variant and graded as variants of uncertain significance (VUS).
创建时间：
2022-12-20
