Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.S1036S
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ADAMTS13

NM_139027.6:p.S1036S

Associated Papers

Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Jankowska KI et al.

Blood Advances, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

In silico features of ADAMTS13 contributing to plasmatic ADAMTS13 levels in neonates with congenital heart disease.

Katneni UK et al.

Thrombosis Research, 2020

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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."