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Detection of noncanonical splice site mutations in hereditary deafness

NIAID Data Ecosystem2026-03-13 收录

遗传性耳聋分子病理

剪接位点分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA779459 数据链接链接失效反馈

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资源简介：

Detection and functional verification of noncanonical splice site mutations in hereditary deafness

应用场景：

创建时间：

2021-11-10

RNA测序

剪接位点分析

RNA-Seq reads of 32 animal species were mapped to the corresponding genome sequence. The coverage around splice sites within the protein coding sequence of genes is listed. Each line represents one in

DataCite Commons2020-12-26 更新100

SLaP mapper analysis of Blastocrithidia nonstop

剪接位点分析

多聚腺苷酸化分析

SLaP mapper (http://www.stevekellylab.com/software/slap) analysis of identified trans-splicing and polyadenylation sites in Blastocrithidia nonstop genome, using regular transcriptome library and 3'-e

Figshare2022-09-27 更新60

Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear

耳发育分子机制

遗传性耳聋分子病理

Pendred’s syndrome is an autosomal-recessive disorder characterized by deafness and goiter. After our recent identification of the human gene mutated in Pendred’s syndrome (PDS), we sought to investig

PubMed Central1999-08-17 更新40

Additional file 5 of Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

基因组学

剪接位点分析

Additional file 5. The Number Distribution of The Pass Intronic Variants.

DataCite Commons2024-03-04 更新90

Additional file 1 of Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

基因组学

剪接位点分析

Additional file 1. All Annotated Pass Variants Information.

DataCite Commons2024-03-04 更新50