Varaico: Literature-Extracted Genetic Variants

Gene:FHL2
Variant:p.C129S
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FHL2

NM_001318895.3:p.C129S

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

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Shabrish S et al.

Frontiers in Immunology, 2021

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

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.

Mhatre S et al.

Blood Cells, Molecules & Diseases, 2015

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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."