A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
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Yiping Shen | Z. Qin | Jiasun Su | Shang Yi | Limei Huang | Yue Zhang | X. Fan | Shujie Zhang | Wei Li | T. Jiang | Jingrong Luo