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
Li, Wei, Fan, Xin, Zhang, Yue, Huang, Limei, Jiang, Tingting, Qin, Zailong, Su, Jiasun, Luo, Jingrong, Yi, Shang, Zhang, Shujie, Shen, YipingТом:
21
Журнал:
BMC Medical Genetics
DOI:
10.1186/s12881-020-01039-5
Date:
December, 2020
Файл:
PDF, 1.15 MB
2020
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