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中文
Deciphering the pathogenicity of
COL4A4
heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome
Xuantong Dai, Ningning Hu, Xujie Zhou, Ning Yang, Hongli Lin, Gengru Jiang, Fujun Lin
Chinese Journal of Nephrology . 2023, (
3
): 179 -187 . DOI: 10.3760/cma.j.cn441217-20220712-00720