Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR2
Variant:p.R89C
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HAVCR2

NM_032782.5:p.R89C

Associated Papers

A novel germline HAVCR2 (TIM-3) compound heterozygous mutation is related to hemophagocytic lymphohistiocytic syndrome in EBV-positive peripheral T-cell lymphoma (NOS) with down-regulated TIM-3 signaling.

Zhang Y et al.

Frontiers in Oncology, 2022

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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."