首页/数据集/Monogenic and epistatic effects of <i>Col17a1</i> mutations.

Monogenic and epistatic effects of <i>Col17a1</i> mutations.

NIAID Data Ecosystem2026-05-01 收录

基因突变功能分析

遗传互作效应

数据链接：

https://figshare.com/articles/dataset/Monogenic_and_epistatic_effects_of_i_Col17a1_i_mutations_/24252231 数据链接链接失效反馈

官方服务：

资源简介：

Monogenic and epistatic effects of Col17a1 mutations.

应用场景：

创建时间：

2023-10-05

遗传性免疫缺陷

基因突变功能分析

This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified a single de novo missense variant in

NIAID Data Ecosystem100

RNAseq of FACS-sorted C.elegans neurons from wildtype and thoc-5(wy822) mutant animals.. Caenorhabditis elegans

神经细胞转录组学

基因突变功能分析

We sorted approx. 10000 neurons per sample from day one adult worms. We collected two wildtype samples and three thoc-5(wy822) mutant samples. Overall design: RNAseq of FACS-sorted C.elegans neurons f

NIAID Data Ecosystem70

mak3_vs_WT. Arabidopsis thaliana

植物分子遗传学

基因突变功能分析

Series of 6 repetitions of hybridization of treatment (mak3) and control (WT) each. Comparison of Arabidopsis mak3 mutant defective in cytoplasmic N-acetyltransferase versus WT. P. Pesaresi et al., Pl

NIAID Data Ecosystem30

Changes in parameters of steady-state variables and maximum conductance of I Kur carried by the KCNA5 mutants relative to WT.

离子通道电生理

基因突变功能分析

Changes in parameters of steady-state variables and maximum conductance of IKur carried by the KCNA5 mutants relative to WT.

NIAID Data Ecosystem80

Figure 3

基因突变功能分析

抑癌功能研究

COSMIC variants found in the LisH-H1 of oncogenes are tested for how they might effect the repressive function.

NIAID Data Ecosystem60