TAB2 haploinsufficiency
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
We identified t a series of 12 individuals from nine families with loss-of-function variants in TAB2 and a multi-system phenotype. This condition emerges as a novel recognizable syndrome with cardiovascular anomalies, facial dysmorphisms and multiple connective tissue features. Overall design: 6 RNA samples derived from fibroblasts of TAB2 patients and 5 control samples derived from fibroblats of unaffected individuals were subjected to RNA-Seq analysis.
创建时间：
2022-02-09
