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Phenotypic traits related to FHHNC and matched SKAT-O genes to GWAS catalog associated variants.

Figshare2025-04-02 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Phenotypic_traits_related_to_FHHNC_and_matched_SKAT-O_genes_to_GWAS_catalog_associated_variants_/28717505 数据链接链接失效反馈

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Phenotypic traits related to FHHNC and matched SKAT-O genes to GWAS catalog associated variants.

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创建时间：

2025-04-02

遗传病机制

转录组学分析

RNA sequencing of human dermal fibroblasts from CAID patients passage 8 and passage 14 Overall design: RNA sequencing was perfomed on 3 wild type controls and 3 CAID patients fibroblast cell lines at

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

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Wnt信号通路功能异常

Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. To this end, we investigated the eff

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mBio_Wang_etal_2020_supplement_TableS12

基因-表型关联分析

白色念珠菌

Supplemental Table S12. Genes significantly correlated with a linear model of gene expression for 23 phenotypic measurements in the 21 C. albicans isolates. Each tab describes the phenotype correlated

Figshare2021-03-13 更新20

CD phenotype stratified by disease course.

克罗恩病遗传学

基因-表型关联分析

Aggressive disease behaviour was defined as stricturing and/or penetrating disease course ± CD-related surgery. Given are the allele frequencies (upper line: minor allele frequency in bold, bottom lin

Figshare2015-12-02 更新60

Table_4_Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes.xlsx

基因-表型关联分析

新冠病毒宿主遗传学

Coronavirus disease 2019 (COVID-19) shows a wide variation in expression and severity of symptoms, from very mild or no symptoms, to flu-like symptoms, and in more severe cases, to pneumonia, acute re

NIAID Data Ecosystem40

Phenotypic traits related to FHHNC and matched SKAT-O genes to GWAS catalog associated variants.

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