Varaico: Literature-Extracted Genetic Variants

Gene:EPPK1
Variant:p.V2272I
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EPPK1

NM_031308.4:p.V2272I

Associated Papers

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

Karakus IS et al.

Journal of Clinical Immunology, 2024

38578569 (PubMed )
Supplement: 10875_2024_1682_MOESM4_ESM.xlsx › All_biallelic

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_8

Drug-Sensitivity Screening and Genomic Characterization of 45 HPV-Negative Head and Neck Carcinoma Cell Lines for Novel Biomarkers of Drug Efficacy.

Lepikhova T et al.

Molecular Cancer Therapeutics, 2018

29970484 (PubMed )
Supplement: 15357163mct170733-sup-187271_3_supp_4755361_p8plbf.xlsx › Table_S5
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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."