exome sequencing of a family of congenital contractural arachnodactyly

NIAID Data Ecosystem2026-05-09 收录

罕见遗传病病因发现

外显子变异分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP092434 数据链接链接失效反馈

官方服务：

资源简介：

The aim of this study is to identify the mutation which caused congenital contractural arachnodactyly

创建时间：

2016-12-07

Additional file 1 of A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

遗传病基因诊断

外显子变异分析

Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var

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Additional file 9: of Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer

乳腺癌耐药性

外显子变异分析

Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in tamoxifen-resistant cells (Resistant Reference Reads, Resistant Variant Reads, Resistant Variant Freq

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Editing sites in exons.

RNA编辑

外显子变异分析

Editing sites in exons.

Figshare2016-02-24 更新50

Exome-wide rare loss-of-function variant enrichment study in 21,347 Han Chinese individuals identifies four new susceptibility genes for psoriasis [healthy controls]. Exome-wide rare loss-of-function variant enrichment study in 21,347 Han Chinese individuals identifies four new susceptibility genes for psoriasis [healthy controls]

银屑病遗传易感性

外显子变异分析

Most psoriasis-related genes or loci identified through genome-wide association studies (GWASs) represent common clusters and are located in non-coding regions of the human genome, providing only limi

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ena-DATASET-MUGQIC-22-08-2018-22:46:09:953-156 - samples

淋巴瘤基因组测序

外显子变异分析

Whole exome sequencing data of 17 SPTCL cases, including 7 matched-normal samples.EGA dataset EGAD00001004310

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