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A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
Clinical dysmorphology Pub Date : 2021-04-01 , DOI: 10.1097/mcd.0000000000000362
Ataf H Sabir 1, 2 , Ananya Singh 2 , George Elley 3 , Evangeline Wassemer 4 , Katharine Foster 5 , Melissa Sloman 6 , Derek Lim 1, 2
Affiliation  



中文翻译:

隐性类型 COL4A1 相关疾病的第二份报告:一种新型纯合错义变异。

更新日期:2021-04-01
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