Targeted RT-PCR assays spanning unannotated splice junctions sequenced by Roche 454.

ChEBI2012-06-26 更新2026-07-21 收录

基因剪接功能验证

转录组靶向测序

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-38886 数据链接链接失效反馈

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资源简介：

Targeted RT-PCR assays spanning unannotated splice junctions sequenced by Roche 454.

创建时间：

2012-06-26

Splicing Functional Assays of CHEK2 splice-site variants identified in the BRIDGES project

基因剪接功能验证

乳腺癌风险评估

This dataset corresponds to a comprehensive study of splice-site variants of the breast cancer susceptibility gene CHEK2. Variant data have been obtained from the large-scale sequencing project BRIDGE

DataCite Commons2024-10-01 更新80

Splicing Functional Assays of PALB2 splice-site variants reported at the ClinVar database

基因剪接功能验证

变异致病性评估

[Method] Splicing functional assays of PALB2 variants by hybrid minigenes. Protocol Workflow: 1) Minigene construction. 2) Site-directed mutagenesis. 3) Cell Transfection. 4) RNA Isolation. 5) RT-PCR.

DataCite Commons2024-10-01 更新30

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium

视网膜色素上皮病理

基因剪接功能验证

Improper light focus on the retina, refractive error, is primarily caused by eye size differences and is the leading cause of vision loss worldwide. C-terminal variants in the Myelin Regulatory Factor

NIAID Data Ecosystem20

Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database

癌症遗传学

基因剪接功能验证

This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-fun

DataCite Commons2024-10-01 更新40

Data_Sheet_1_Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.PDF

遗传病分子机制

基因剪接功能验证

Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early death, and a much milder form called oc

NIAID Data Ecosystem30

Targeted RT-PCR assays spanning unannotated splice junctions sequenced by Roche 454.

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