Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.R375G
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PRF1

NM_001083116.3:p.R375G

Associated Papers

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

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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."