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Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

机译：exome测序揭示了疑似说令人疑似的患者Huwe1基因的新型剪接位点变体

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Babylakshmi Muthusamy; Thong T. Nguyen; Aravind K. Bandari; Salah Basheer; Lakshmi Dhevi N. Selvan; Deepshikha Chandel; Jesna Manoj; Srimonta Gayen; Somasekar Seshagiri; Satish Chandra Girimaji; Akhilesh Pandey;
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1. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report [J] . Bozkurt Tugce, Alanay Yasemin, Isik Ugur, BMC Medical Genomics . 2021,第1期

机译：重新分析全外壳测序数据，揭示了患有血管瘤的Glut1缺乏综合征1的SLC2A1中的新型拼接变体：案例报告
2. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb [J] . Umair Muhammad, Shah Khadim, Alhaddad Bader, European journal of human genetics: EJHG . 2017,第8期

机译：exome测序显示在轴向多乳扁型底部的IQCE基因中的剪接位点变体，限制为下肢
3. Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia [J] . Ullah A., Kalsoom U. -E, Umair M., Clinical Genetics: An International Journal of Genetics in Medicine . 2017,第3期

机译：exome测序显示了在全室外发育不良的ALX1基因中的新型剪接位点变体
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb [O] . Muhammad Umair, Khadim Shah, Bader Alhaddad, 2017

机译：外显子组测序显示IQCE基因的剪接位点变异位于下肢多指型A下
7. Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1 [O] . Patrick R. Blackburn, Duygu Selcen, Jennifer M. Gass, 2017

机译：具有疑似线粒体肌病患者的整体exome测序揭示了Ryr1中的新化合物杂合子变体

Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

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