Varaico: Literature-Extracted Genetic Variants

Gene:PDCD1
Variant:p.P35insFs
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PDCD1

NM_005018.3:p.P35insFs

Associated Papers

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.

Johnson MB et al.

The Journal of Experimental Medicine, 2024

Inborn errors of immunity associated with defects of self-tolerance checkpoints: The CD28 family.

Rush-Kittle J et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

BAT26 Only Microsatellite Instability with High Tumor Mutation Burden-A Rare Entity Associated with PTEN Protein Loss and High PD-L1 Expression.

Kang SY et al.

International Journal of Molecular Sciences, 2022

36142641 (PubMed )
Supplement: ijms-23-10730-s001.zip › ijms-1894791-supplementary.pdf

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.

Ogishi M et al.

Nature Medicine, 2021

Inborn Errors of Immunity and Their Phenocopies: CTLA4 and PD-1.

Hao Y et al.

Frontiers in Immunology, 2021

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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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."