Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.E301del1
Back to variants list

BTK

NM_000061.3:p.E301del1

Associated Papers

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.

Chin AT et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H et al.

Journal of Clinical Immunology, 2024

Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report.

Hu XM et al.

World Journal of Clinical Cases, 2020

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Esenboga S et al.

Scandinavian Journal of Immunology, 2018

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L et al.

Clinical Immunology (orlando, Fla.), 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."