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A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1

Xue, Ruzeng; Cheng, Qing; Li, Ming; Peng, Sha; Liang, Lina; Lin, Mao-ying; Wang, Huijun*; Lin, Zhimiao
Science Citation Index Expanded
北京大学; 南方医科大学

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