Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.V50L
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PRF1

NM_001083116.3:p.V50L

Associated Papers

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.

Wegehaupt O et al.

Blood, 2025

40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.

Park JE et al.

Frontiers in Pediatrics, 2022

36440336 (PubMed )
Supplement: Datasheet1.pdf

Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.

Bi SH et al.

World Journal of Clinical Cases, 2021

[Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis].

Zhou XH et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016

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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."