Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.W374G
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PRF1

NM_001083116.3:p.W374G

Associated Papers

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

Bordbar MR et al.

Bmc Medical Genetics, 2017

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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."