Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
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Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s13577-024-01093-8.pdf
Reference6 articles.
1. Li S, Mei L, He C, et al. Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs. Hum Cell. 2024;37(3):817–31.
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5. den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37(6):564–9.
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