Varaico: Literature-Extracted Genetic Variants

Gene:FHL2
Variant:p.M1V
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FHL2

NM_001318895.3:p.M1V

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

A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

Hori M et al.

Journal of Clinical Immunology, 2017

Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

An O et al.

Protein Science : a Publication of the Protein Society, 2013

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

Ueda I et al.

British Journal of Haematology, 2003

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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."