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De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter

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Year: 2015
Type: article
Study design: Case Report
Source: American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.37179
Authors: Bing Xiao, Huihui Xu, Hui Ye, Qin Hu, Yingwei Chen, Wenjuan Qiu
Institutions: Shanghai Jiao Tong University, XinHua Hospital
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: National Natural Science Foundation of China
Awards: G3215415348, 多种酰基辅酶A脱氢酶缺乏症ETFDH基因新错义突变的病理功能研究, G7316235755
OpenAlex ID: W1941578120
FWCI: 0.456
Cites: 14
Cited by: 11
Related to: 10
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