Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.A226V
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PRF1

NM_001083116.3:p.A226V

Associated Papers

Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).

zur Stadt U et al.

Medical and Pediatric Oncology, 2003

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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."