Homo sapiens Raw sequence reads. Homo sapiens
收藏NIAID Data Ecosystem2026-03-09 收录
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5 rare non-synonymous mutations in highly conserved residues in HSPA1L in 5 paediatric patients with Inflammatory Bowel Disease. Since HSPA1L is involved in protein refolding, in vitro assays to characterised these mutations were performed. The assays indicated that the found mutations caused varying degrees of altered protein function with some functioning as a dominant negative.
创建时间：
2016-12-06
