Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L17delFs
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C2

NM_000063.6:p.L17delFs

Associated Papers

[Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].

Yu MZ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023

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

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.

Ishii E et al.

Critical Reviews in Oncology/hematology, 2005

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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."