Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.P477A
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PRF1

NM_001083116.3:p.P477A

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

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

An O et al.

Protein Science : a Publication of the Protein Society, 2013

Variations of the perforin gene in patients with multiple sclerosis.

Cappellano G et al.

Genes and Immunity, 2008

Variations of the perforin gene in patients with type 1 diabetes.

Orilieri E et al.

Diabetes, 2008

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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."