Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

For example, whereas genetic variants predisposing to pathogenic venous thromboses are usually assumed to encode components and mediators of the coagulation cascade, the current cohort suggested a possible trend with erythrocyte enzyme variants, and there has been some discussion of thrombosis in red cell enzymopathy fields. 80 Opportunities to test current associations will be enhanced if enzymopathy genes are included in gene panels for VTE and further scientific examination appears warranted.

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