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Genomic changes in Bone marrow failure Syndromes.. Homo sapiens

NIAID Data Ecosystem2026-03-13 收录

骨髓衰竭

疾病表型关联

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA808814 数据链接链接失效反馈

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资源简介：

The aim of the study is to identify the genomic changes & its effects on phenotype development in Idiopathic cases.

应用场景：

创建时间：

2022-02-21

免疫学

骨髓衰竭

Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pat

DataCite Commons2020-08-27 更新60

Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease

神经遗传病

疾病表型关联

Objective: To characterize the neurological phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation. Methods We analyzed clinical, EEG and neuroimaging data of 44 new

NIAID Data Ecosystem20

Table_4_Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity.XLSX

先天性免疫缺陷

疾病表型关联

The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and disea

NIAID Data Ecosystem10

Biallelic loss-of-function variants of ERBB3 associated with a novel multisystem syndrome without congenital contracture

遗传病致病机制

疾病表型关联

Supplementary material Fig. S1, Table S1, S2, and S3

Figshare2019-03-14 更新40

Additional file 4: of CD106 is a novel mediator of bone marrow mesenchymal stem cells via NF-ÎşB in the bone marrow failure of acquired aplastic anemia

骨髓衰竭

干细胞分子调控

Gene data. The differently expressed genes detected by GeneChip. (XLSX 4 kb)

Figshare2017-08-02 更新10