Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing
Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, compos…
Category: Genetics research
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3′ splice sites
In the human genome, CAG 3' splice sites (3'ss) are more than twice as frequent as TAG 3'ss. The greater abundance of the form…