Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.Q1041*
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ADAMTS13

NM_139027.6:p.Q1041*

Associated Papers

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.

Seidizadeh O et al.

Blood Advances, 2024

38935915 (PubMed )
Supplement: BLOODA_ADV-2024-013421-mmc1.pdf

A Case of Parturient with Hereditary Thrombotic Thrombocytopenic Purpura: Case Report of a Novel Variant.

Chen JK et al.

Seminars in Thrombosis and Hemostasis, 2022

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Borogovac A et al.

Blood Advances, 2022

34807988 (PubMed )
Supplement: advancesADV2021005760-suppl1.pdf

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_MOESM2_ESM.xlsx › known

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report.

Hou L et al.

Bmc Medical Genetics, 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."