Homo sapiens Raw sequence reads. Homo sapiens

NIAID Data Ecosystem2026-03-11 收录

遗传病基因突变

精准医学诊断

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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA600106 数据链接链接失效反馈

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Identification of a new X-linked COL4A5 gene mutation in Alport syndrome accompanied by IgA Nephropathy from a Chinese family

创建时间：

2020-01-09

A novel splice site mutation in IDUA genen

遗传病基因突变

黏多糖贮积症

We have identified a novel c.1650 + 1G> T splicing mutation in patients with mucopolysacchariodosis type I. This variant affects the essential nucleotide +1 (G to T) of the donor splice site of IDUA i

NIAID Data Ecosystem60

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

遗传病基因突变

视网膜研究

Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified

NIAID Data Ecosystem50

Additional file 3 of Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

遗传病基因突变

精准医疗建模

Additional file 3: Table S1. Sanger Sequencing HepG2. Results of genotyping WT HepG2 cells and four MCAD-knockouts.

Figshare2023-11-19 更新50

Table S1 - Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

遗传病基因突变

视网膜研究

SNPs that are homozygous in both affected siblings and heterozygous or absent in the unaffected sibling. (DOC)

Figshare2015-12-02 更新50

Novel mutations in Darier disease and association to self-reported disease severity

遗传病基因突变

基因型-表型关联分析

Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and i

Figshare2017-10-14 更新50

Homo sapiens Raw sequence reads. Homo sapiens

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