Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.L402P
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BTK

NM_000061.3:p.L402P

Associated Papers

Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.

Xinh PT et al.

Molecular Biology Reports, 2025

Screening and Characterization of Allosteric Small Molecules Targeting Bruton's Tyrosine Kinase.

Kueffer LE et al.

Biochemistry, 2024

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK et al.

Allergy, Asthma & Immunology Research, 2020

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Carrillo-Tapia E et al.

Expert Review of Clinical Immunology, 2018

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.

Pons T et al.

Bmc Genomics, 2016

27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

López-Granados E et al.

The Journal of Allergy and Clinical Immunology, 2005

[Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients].

Plo Rodríguez F et al.

Anales Espanoles De Pediatria, 1999

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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."