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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-10-14 , DOI: 10.1111/cge.13854 Edoardo Errichiello 1 , Alessia Arossa 2 , Angela Iasci 2 , Roberta Villa 3 , Benedetta Ischia 4 , Maria Angela Pavesi 5 , Tommaso Rizzuti 6 , Maria Francesca Bedeschi 3 , Orsetta Zuffardi 1
中文翻译:
TBX6 基因剂量模型中的另一部分:严重脊柱肋骨发育不良胎儿的一种新的无意义变异
更新日期:2020-11-18
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-10-14 , DOI: 10.1111/cge.13854 Edoardo Errichiello 1 , Alessia Arossa 2 , Angela Iasci 2 , Roberta Villa 3 , Benedetta Ischia 4 , Maria Angela Pavesi 5 , Tommaso Rizzuti 6 , Maria Francesca Bedeschi 3 , Orsetta Zuffardi 1
Affiliation
中文翻译:
TBX6 基因剂量模型中的另一部分:严重脊柱肋骨发育不良胎儿的一种新的无意义变异