Novel truncating variant of <i>MN1</i> penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review
Arman Zhao(Soochow University), Qin Gu(Shanghai Jiao Tong University), Dandan Shu(Soochow University), Bin Yang(Guilin Medical University), Yiping Shen(Zhejiang Chinese Medical University), Daxue Zhang(Soochow University), Haitao Lv(Hebei Medical University), Jian Wang(Sun Yat-sen University), Ruen Yao(Shanghai Jiao Tong University), L. Elliot Hong(University of Maryland, Baltimore), Hongying Wang(Soochow University)
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