Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.Q263fs
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PRF1

NM_001083116.3:p.Q263fs

Associated Papers

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

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

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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."