Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
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DOI: 10.1093/hmg/ddac252
Abstract: Haploinsufficiency of TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2 (TAB2) has been associated with congenital heart disease and more recently multiorgan structural abnormalities. Missense variant represents a major proportion of non-synonymous TAB2 variants reported… read more here.
Keywords: disease; tab2 variants; pathogenicity; tab2 ... See more keywords