Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.C377Y
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PRF1

NM_001083116.3:p.C377Y

Associated Papers

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.

Wegehaupt O et al.

Blood, 2025

40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1

Chronic Graft-Versus-Host-Disease-Related Polymyositis: a 17-Months-Old Child with a Rare and Late Complication of Haematopoietic Stem Cell Transplantation.

Chinello M et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2020

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G et al.

Blood, 2018

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Benezech S et al.

Clinical Case Reports, 2017

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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."