Application of minigene splicing variant analysis to diagnose the pathogenicity of a novel non-canonical splicing-site variant of the PMM2 gene

ZHOU Qin, LIN Weixia, SONG Yuanzong

Journal of Jinan University Natural Science & Medicine Edition ›› 2024, Vol. 45 ›› Issue (2) : 124-131.

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Journal of Jinan University Natural Science & Medicine Edition ›› 2024, Vol. 45 ›› Issue (2) : 124-131. DOI: 10.11778/j.jdxb.20230259

Application of minigene splicing variant analysis to diagnose the pathogenicity of a novel non-canonical splicing-site variant of the PMM2 gene

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{{article.zuoZheEn_L}}. {{article.title_en}}. {{journal.qiKanMingCheng_EN}}. 2024, 45(2): 124-131 https://doi.org/10.11778/j.jdxb.20230259

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