Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.P566L
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BTK

NM_000061.3:p.P566L

Associated Papers

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.

Perez-Olais JH et al.

Journal of Personalized Medicine, 2025

40863427 (PubMed )
Supplement: jpm-15-00365-s001.zip › jpm-3708733-supplementary.pdf

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic

On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2024

39062807 (PubMed )
Supplement: ijms-25-07564-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S3

Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.

Khan F et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2021

Follicular Lymphoma-associated BTK Mutations are Inactivating Resulting in Augmented AKT Activation.

Hu N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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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."