Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.K608N
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ADAMTS13

NM_139027.6:p.K608N

Associated Papers

N-glycan shielded CUB domains of ADAMTS13 prevent binding of C-terminal antibodies in patients with immune-mediated TTP.

Postmus T et al.

Blood Advances, 2025

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Zhao T et al.

Bmc Genomic Data, 2021

34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM9_ESM.xlsx › gnomAD

N-glycan-mediated shielding of ADAMTS13 prevents binding of pathogenic autoantibodies in immune-mediated TTP.

Ercig B et al.

Blood, 2021

Autoantibody-resistant ADAMTS13 variant.

Miyata T

Blood, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."