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