Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.L43M
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PRF1

NM_001083116.3:p.L43M

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

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

Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.

Ishimura M et al.

Frontiers in Pediatrics, 2019

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.

Jin Z et al.

Orphanet Journal of Rare Diseases, 2018

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Benezech S et al.

Clinical Case Reports, 2017

Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.

Wang Y et al.

Plos One, 2014

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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."