Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.Y296H
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PRF1

NM_001083116.3:p.Y296H

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

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.

Ashok V et al.

Journal of Pediatric Hematology/oncology, 2019

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G et al.

Blood, 2018

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.

Kaufman KM et al.

Arthritis & Rheumatology (hoboken, N.j.), 2014

An enigmatic tale of macrophages in bone marrow causing inflammation of the brain: A case report on CNS HLH.

Verriet IE et al.

Hematology, Transfusion and Cell Therapy, 0

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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."