Stem-cell-based functional genomics for the large-scale analysis of genetic variants

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Nature Biomedical Engineering | 2024年 / 8卷
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We functionally assessed clinically observed mutations of the BRCA2 gene and analysed structure–function relationships of variants of the gene by using high-throughput CRISPR-mediated mutagenesis and pooled screening in locally haploid human pluripotent stem cells and in fibroblasts differentiated from them.
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页码：114 / 115
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