Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.V329insFs
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PRF1

NM_001083116.3:p.V329insFs

Associated Papers

Central nervous system involvement in pediatric hemophagocytic lymphohistiocytosis: A single-center descriptive study of clinical features, neurodiagnostic findings, and outcomes.

Nath M et al.

Clinical Hematology International, 2026

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

Gadoury-Levesque V et al.

Blood Advances, 2020

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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."