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A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
Gene ( IF 3.5 ) Pub Date : 2024-03-13 , DOI: 10.1016/j.gene.2024.148379 Dandan Xiang , Kangkang Xu , Mei Chen , Zhongman Zhang , Ningning Sun , Yuying Qi , Jie Lu , Chunli Wang , Shiwei Yang
更新日期:2024-03-13
Gene ( IF 3.5 ) Pub Date : 2024-03-13 , DOI: 10.1016/j.gene.2024.148379 Dandan Xiang , Kangkang Xu , Mei Chen , Zhongman Zhang , Ningning Sun , Yuying Qi , Jie Lu , Chunli Wang , Shiwei Yang