Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP331968
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资源简介：
This is the firstly reported case of a SOFT syndrome patient with a novel homozygous splicing variant in Chinese.
创建时间：
2021-08-12
