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, (2): 124 -131 .  DOI: 10.11778/j.jdxb.20230259