A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

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Frameshiftと肉芽腫性組織球症https://t.co/xkNISBYChC 軽度SLC29A3障害:Frameshift欠失 →Noncoding mRNA Splice変異体の逆説的翻訳 https://t.co/QqjwQdVlNv 鼻領域顕著な肉芽腫性組織球症の兄弟にヒト平衡nucleoside transporter-3をcodeするSLC29A3のホモ接合性Frameshift欠失→転写物の発現障害 https://t.co/UyY5x00ppf

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