Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review
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Yiping Shen | Jian Wang | H. Lv | Liyi Hong | R. Yao | Jian Wang | Arman Zhao | Hongying Wang | Dandan Shu | Daxue Zhang | Bin Yang | An Wang | Q. Gu