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A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-07-26 , DOI: 10.1111/cge.14034 Eva Maria Christina Schwaibold 1 , Melanie Brugger 2 , Matias Wagner 2, 3
中文翻译:
男性患者的 C 末端 BCOR 无义变异扩大了 BCOR 相关综合征性小眼症的表型谱
更新日期:2021-09-03
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-07-26 , DOI: 10.1111/cge.14034 Eva Maria Christina Schwaibold 1 , Melanie Brugger 2 , Matias Wagner 2, 3
Affiliation
中文翻译:
男性患者的 C 末端 BCOR 无义变异扩大了 BCOR 相关综合征性小眼症的表型谱