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1 Ergebnisse
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Case report: A novel heterozygous synonymous variant in dee..:
Meizhen Shi
;
Yuying Liang
;
Bobo Xie
...
https://www.frontiersin.org/articles/10.3389/fgene.2022.1056127/full. , 2022
Link:
https://doi.org/10.3389/fgene.2022.1056127
RT Journal T1 <Title>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</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:c2ab08a0952c4ec2be91a738b5d223d3&Exemplar=1&LAN=DE A1 Meizhen Shi A1 Yuying Liang A1 Bobo Xie A1 Xianda Wei A1 Haiyang Zheng A1 Chunrong Gui A1 Rong Huang A1 Xin Fan A1 Chuan Li A1 Xiaojiao Wei A1 Yunting Ma A1 Shaoke Chen A1 Yujun Chen A1 Baoheng Gui PB Frontiers Media S.A. YR 2022 K1 NIPBL K1 synonymous variant K1 non-canonical splice donor K1 whole-exome sequencing K1 cornelia de lange syndrome K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2022.1056127/full 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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