Non-synonymous <i>SQSTM1</i> mutations.

NIAID Data Ecosystem2026-03-09 收录

SQSTM1基因突变

疾病相关变异

数据链接：

https://figshare.com/articles/dataset/Non-synonymous_i_SQSTM1_i_mutations_/3428393 数据链接链接失效反馈

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资源简介：

Non-synonymous SQSTM1 mutations.

创建时间：

2016-06-13

Gene_Network_Sequence_Variant_Datasets_mTOR_TGF_Beta

基因组学

疾病相关变异

The mTOR and TGF-Beta pathway genes were selected based on KEGG database (https://www.genome.jp/kegg/). Genomic sequences of the pathway genes were fetched from GRCh37 human genome database based on t

DataCite Commons2022-03-05 更新90

Closer analysis of variants most likely contributing to the development of cervical insufficiency in our patients.

宫颈机能不全

疾病相关变异

Closer analysis of variants most likely contributing to the development of cervical insufficiency in our patients.

Figshare2020-03-26 更新40

Shanshan Lv-Supplementary TableS1.xlsx

群体遗传学

疾病相关变异

Demographic characteristics and variants information of 223 probands

Figshare2021-05-12 更新30

List of ENCODE regions used as disease loci [45].

基因组功能注释

疾病相关变异

*Variants with MAF of either between 0.1–0.3 or between 0.005–0.04 after resampling of haplotypes using HAPGEN.

NIAID Data Ecosystem50

The SNP-involved, miRNA mediated, post-transcriptional regulation modules (SNP-MPRMs) in the YRI population.

基因表达调控

疾病相关变异

SNP: The SNP located in a predicted miRNA targets site in the 3′ UTR region of the corresponding gene; Mutation: DS indicates that the target site predicted from the reference sequence (hg18) is disru

Figshare2015-12-02 更新30

Non-synonymous <i>SQSTM1</i> mutations.

资源简介：

相关数据集