Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.R361_L364del4
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PRF1

NM_001083116.3:p.R361_L364del4

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

Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.

You Y et al.

Medicine, 2023

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.

Hu LY et al.

Frontiers in Immunology, 2023

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

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients.

Feng WX et al.

Frontiers in Genetics, 2020

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.

Jin Z et al.

Orphanet Journal of Rare Diseases, 2018

[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].

Zhang J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016

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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."