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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS13

Variant:p.E444*

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ADAMTS13

NM_139027.6:p.E444*

hg38:chr9:133436850 G>T

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

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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."