Varaico: Literature-Extracted Genetic Variants

Gene:PIGT
Variant:p.K256_D257delFs
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PIGT

NM_015937.6:p.K256_D257delFs

Associated Papers

Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report.

Schenone L et al.

World Journal of Clinical Cases, 2022

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

Höchsmann B et al.

The Journal of Clinical Investigation, 2019

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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."