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Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

机译：使用全外显子组序列鉴定早期发作的特应性皮炎中包括COL6A6多态性的新候选变体

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Won Il Heo; Kui Young Park; Taewon Jin; Mi-Kyung Lee; MinJeong Kim; Eung Ho Choi; Hae-Suk Kim; Jung Min Bae; Nam Ju Moon; Seong Jun Seo;
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1. Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing [J] . Won Il Heo, Kui Young Park, Taewon Jin, BMC Medical Genetics . 2017,第1期

机译：使用全外显子组测序鉴定早发性特应性皮炎中包括COL6A6多态性的新候选变体
2. Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing [J] . Won Il Heo, Kui Young Park, Taewon Jin, BMC Medical Genetics . 2017,第1期

机译：使用全外显子组测序鉴定早发性特应性皮炎中包括COL6A6多态性的新候选变体
3. Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing [J] . Ellyard Julia I., Jerjen Rebekka, Martin Jaime L., Arthritis & rheumatology. . 2014,第12期

机译：全外显子组测序鉴定早期发病的脑系统性红斑狼疮TREX1的致病变异。
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Development of a comprehensive massively parallel sequencing panel of single nucleotide polymorphism and short tandem repeat markers for human identification [D] . Warshauer, David H. 2015

机译：单核苷酸多态性和短串联重复标记的全面大规模平行测序专家组的开发用于人类鉴定
6. Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing [O] . Won Il Heo, Kui Young Park, Taewon Jin, 2017

机译：使用全外显子组序列鉴定早期发作的特应性皮炎中包括COL6A6多态性的新候选变体
7. Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing [O] . Ellyard, Julia I., Jerjen, Rebekka, Martin, Jaime L., 2014

机译：全外显子组测序鉴定早发性脑系统性红斑狼疮TREX1中的致病变异

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

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