Using detailed haplotype analysis of both STR and SNP markers, we confirmed that all affected individuals shared the same haplotype spanning ~ 658 kbp including the complete coding region of the KCNQ1 gene
By the end of January 2020, a total of 90 distinct ALK fusion partners (including noncoding RNAs) have been identified in the literature [20]. Additionally, we extensively searched PubMed publications, conference/assembly abstracts, and presentations to identify new ALK fusion partners since 2020,...
Rare, coding variations have the greatest potential to disrupt protein function and are likely to make greater con- tribution to complex common disease risk including schizophrenia17,19,25,30,65. Our experiments were designed tsoysatsesmes,santhdetfhuenycdtieomnoalncsotrnasteeqtuheatnRce1s3o4f6TH...
Rare, coding variations have the greatest potential to disrupt protein function and are likely to make greater con- tribution to complex common disease risk including schizophrenia17,19,25,30,65. Our experiments were designed tsoysatsesmes,santhdetfhuenycdtieomnoalncsotrnasteeqtuheatnRce1s3o4f6TH...
If the length of deleted/inserted mRNA segment is divisible by three it can possibly retain Genes 2022, 13, 1485 3 of 8 Genes 2022, 13, x FOR PEER REVIEWthe coding frame and not lead to premature termination and mRNA degradation. Cha3nogfes8 in the last exon and towards the end of ...
The targeted enrichment was performed with a customized QIAGEN QIAseq Targeted DNA Panel primer designed to amplify all coding regions of the following genes: AKT1, AR, BRCA1, BRCA2, EGFR, ERBB2, ERBB3, ERCC4, ESR1, KRAS, FGFR1, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. The ...
All coding exons of MEN1 (LRG_509t1) were amplified using tiTaq DNA polymerase (EurX, Gdansk, Poland) and 100 ng DNA in a 25-µL reaction in an Eppendorf MasterCycler thermocycler. Following electrophoresis (Biometra Horizon 20.25 with a Consort EV243 power pack) on a 1% agarose gel ...