Additional file 2 of First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_First_case_report_of_complete_paternal_isodisomy_of_chromosome_10_harbouring_a_novel_variant_in_COL17A1_that_causes_junctional_epidermolysis_bullosa_intermediate/20098745/1
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资源简介：
Additional file 2. Table of identified variants annotated as pathogenic/likely pathogenic for the trio.
提供机构：
Wang, Jin-Jiang; Bi, Xin-Ling; Liu, Ming-Hua; Yu, Dong; Qin, Li-Na; Wang, Neng-Zhuang; Zheng, Hao; Wang, Yao; Ma, Long; Yan, Hong-Li; Wei, Wei; Li, Jia-Xi
创建时间：
2022-06-19
