Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.W425insFs
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PRF1

NM_001083116.3:p.W425insFs

Associated Papers

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

Sharma S et al.

Journal of Clinical Immunology, 2025

Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.

Bi SH et al.

World Journal of Clinical Cases, 2021

[Analysis of PRF1gene variant in a child with late-onset familial hemophagocytic lymphohistiocytosis type 2 and severe central nervous system disease].

Ding Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."