Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.Q433_D434Splc
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PIK3R1

NM_181523.3:p.Q433_D434Splc

Associated Papers

Application of whole-exome sequencing to predict inborn errors of immunity in pediatric severe infections and sepsis.

Moundir A et al.

Clinical and Experimental Immunology, 2025

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Conti F et al.

Frontiers in Pediatrics, 2021

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis
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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."