PDF(1087 KB)
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
PDF(1087 KB)
Deciphering the pathogenicity of COL4A4 heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome
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