Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients

Authors Zhang Li, Yu Li, Shu Xianhong, Ding Jing, Zhou Jingmin, Zhong Chunjiu, Pan Baishen, Guo Wei, Zhang Chunyan, Wang Beili
Journal Journal of Human Genetics
Publication Date 2023-11-00
DOI 10.1038/s10038-023-01179-5

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