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FBN2 variants in patients with CCA

Mendeley Data2024-03-27 更新2024-06-26 收录

遗传病研究

FBN2基因变异

数据链接：

https://data.mendeley.com/datasets/cxgcj3s8t3 数据链接链接失效反馈

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资源简介：

This dataset include 10 variants in 10 patients diagnosed with Congenital Contractural Arachnodactyly.

应用场景：

创建时间：

2024-01-23

遗传病研究

基因突变

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by arteriovenous malformations (AVMs) affecting multiple organs.

DataCite Commons2025-06-01 更新30

Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.

遗传病研究

血统分析

Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.

NIAID Data Ecosystem20

Supplementary Material for: Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

遗传病研究

基因分析

Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, propor

DataCite Commons2020-09-02 更新20

Additional file 4 of Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia

遗传病研究

转录组分析

Supplementary Table 2

DataCite Commons2025-04-11 更新20

Variants detected by whole genome re-sequencing of an affected Labrador Retriever.

犬类基因组变异分析

遗传病研究

aThe sequences were compared to the reference genome (CanFam 3) from a Boxer. Only variants that were homozygous in the affected Labrador Retriever are reported.

NIAID Data Ecosystem20

FBN2 variants in patients with CCA

资源简介：

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