Analysis of incidence of PCD gene mutations in TGA cohort.

NIAID Data Ecosystem2026-03-10 收录

致病基因突变分析

先天性心脏病队列研究

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https://figshare.com/articles/dataset/Analysis_of_incidence_of_PCD_gene_mutations_in_TGA_cohort_/5888089 数据链接链接失效反馈

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资源简介：

Analysis of incidence of PCD gene mutations in TGA cohort.

创建时间：

2018-02-15

Supplementary Material for: A heterozygous variant of FGF13 caused X-linked developmental and epileptic encephalopathy 90 in a Chinese family

遗传性癫痫脑病

致病基因突变分析

Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and

NIAID Data Ecosystem100

In silico analysis of the effect of CDH13 variants.

蛋白质稳定性

致病基因突变分析

The analysis was based on the protein sequence. SIFT scores below 0.05 were considered damaging. I-mutant-3.0 predicted the effects of the variants on protein stability by calculating the unfolding Gi

Figshare2015-12-02 更新40

CO2-dependent small-colony variant Staphylococcus aureus: SCV-5700 Genome sequencing and assembly

细菌表型变异机制

致病基因突变分析

Identification of genomic mutation causing CO2-dependent small-colony variant Staphylococcus aureus: SCV-5700

NIAID Data Ecosystem40

Sequencing data of WD patients

致病基因突变分析

基因型-表型关联研究

To discover the novel ATP7B mutations in southern Chinese patients with Wilson disease (WD), and to determine the spectrum and frequency of mutations in the ATP7B gene and genotype-phenotype correlati

NIAID Data Ecosystem70

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

致病基因突变分析

基因型-表型关联

Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort

NIAID Data Ecosystem40

Analysis of incidence of PCD gene mutations in TGA cohort.

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