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A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

Mendeley Data2026-04-18 收录

血友病A遗传诊断

剪接变异分析

数据链接：

https://data.mendeley.com/datasets/8dwpbhz66y 数据链接链接失效反馈

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资源简介：

DNA and cDNA sequencing data

应用场景：

创建时间：

2025-10-10

RNA-Seq病毒研究

剪接变异分析

File description: Gene-level counts using the gtf file from the release 34 of GENCODE https://www.gencodegenes.org/human/release_34 Split counts spanning from one exon to another using

NIAID Data Ecosystem50

DataSheet4_Identification of Non-Canonical Translation Products in C. elegans Using Tandem Mass Spectrometry.fasta

基因产物

剪接变异分析

Transcriptome and ribosome sequencing have revealed the existence of many non-canonical transcripts, mainly containing splice variants, ncRNA, sORFs and altORFs. However, identification and characteri

NIAID Data Ecosystem40

Additional file 1 of Clusterization in acute myeloid leukemia based on prognostic alternative splicing signature to reveal the clinical characteristics in the bone marrow microenvironment

急性髓系白血病预后

剪接变异分析

Additional file 1: Table S1. Clinical characteristics of patients with AML.

Figshare2024-03-01 更新20

Additional file 3 of Full-length transcriptome reconstruction reveals genetic differences in hybrids of Oryza sativa and Oryza punctata with different ploidy and genome compositions

植物转录组

剪接变异分析

Additional file 3: Table S2. Splice junctions and AS modes with different ploidy levels.

Figshare2024-03-04 更新40

Exon-level annotations of 34 genes with known splicing.

剪接变异分析

异构体功能

Curation confirmed that 34 DAS genes (40 DAS exons) were reported to be variants or isoforms (see Figure 4A). The probeset ID sequences of 40 DAS exons and previous literature on the variants of these

Figshare2015-12-02 更新30

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

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