Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.Q166*
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PRF1

NM_001083116.3:p.Q166*

Associated Papers

Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.

Tengsujaritkul M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.

Ashok V et al.

Journal of Pediatric Hematology/oncology, 2019

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Benezech S et al.

Clinical Case Reports, 2017

Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.

Wang Y et al.

Plos One, 2014

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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."