Varaico: Literature-Extracted Genetic Variants

Gene:ITPR3
Variant:p.V2295M
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ITPR3

NM_002224.4:p.V2295M

Associated Papers

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Blanco E et al.

The Journal of Experimental Medicine, 2025

Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.

Bastidas Torres AN et al.

Genes, Chromosomes & Cancer, 2018

30144205 (PubMed )
Supplement: GCC-57-653-s002.xlsx › 12
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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."