Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.G194G
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ADAMTS13

NM_139027.6:p.G194G

Associated Papers

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

Jankowska KI et al.

Blood Advances, 2022

35667091 (PubMed )
Supplement: advancesADV2022007065-suppl1.pdf

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_MOESM4_ESM.xlsx › Sheet1

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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