Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.V61A
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PRF1

NM_001083116.3:p.V61A

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

Misdiagnosis of adult primary hemophagocytic lymphohistiocytosis as NK/T-cell lymphoma: A case report.

Kong Q et al.

Ejhaem, 2022

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All
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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."