Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.D430insFs
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PRF1

NM_001083116.3:p.D430insFs

Associated Papers

Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.

Ishimura M et al.

International Journal of Hematology, 2024

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Paixão D et al.

Frontiers in Oncology, 2022

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

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

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

Mhatre S et al.

Blood Cells, Molecules & Diseases, 2015

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

Nagai K et al.

Plos One, 2010

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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."