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Case report: A novel heterozygous synonymous variant in dee..:
Shi, Meizhen
;
Liang, Yuying
;
Xie, Bobo
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/fgene.2022.1056127
RT Journal T1
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.3389_fgene.2022.1056127&Exemplar=1&LAN=DE A1 Shi, Meizhen A1 Liang, Yuying A1 Xie, Bobo A1 Wei, Xianda A1 Zheng, Haiyang A1 Gui, Chunrong A1 Huang, Rong A1 Fan, Xin A1 Li, Chuan A1 Wei, Xiaojiao A1 Ma, Yunting A1 Chen, Shaoke A1 Chen, Yujun A1 Gui, Baoheng PB Frontiers Media SA YR 2022 SN 1664-8021 JF Frontiers in Genetics VO 13 LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.1056127 DO https://doi.org/10.3389/fgene.2022.1056127 SF ELIB - SuUB Bremen
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