Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.V117_R119delins
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PRF1

NM_001083116.3:p.V117_R119delins

Associated Papers

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

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1
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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."