Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

Diagnostics（2022）

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dystrophic epidermolysis bullosa,autosomal recessive,whole-exome sequencing,COL7A1 gene,sequence variants

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