Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.Q475_E476Splc
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PIK3R1

NM_181523.3:p.Q475_E476Splc

Associated Papers

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.

Fernandes-Pineda M et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2024

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

Jamee M et al.

Clinical Reviews in Allergy & Immunology, 2020

PIK3R1 (p85α) is somatically mutated at high frequency in primary endometrial cancer.

Urick ME et al.

Cancer Research, 2011

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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."