Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.D49N
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PRF1

NM_001083116.3:p.D49N

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 in a neonate: Case report and literature review.

Yang Y et al.

Medicine, 2021

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

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Benezech S et al.

Clinical Case Reports, 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

Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin.

Chia J et al.

Blood, 2012

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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."