Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.E115K
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PRF1

NM_001083116.3:p.E115K

Associated Papers

Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous PRF1 Variant.

Vatandoost N et al.

Case Reports in Immunology, 2026

Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.

Rayzan E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

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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."