Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G303del1
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BTK

NM_000061.3:p.G303del1

Associated Papers

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

Xinh PT et al.

Molecular Biology Reports, 2025

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Haemolytic Uremic Syndrome Associated with Citrobacter freundii in a Young Boy with X-Linked Agammaglobulinemia.

Sudhakar M et al.

Journal of Clinical Immunology, 2021

Gene analysis of seven cases of primary immunodeficiency.

Zhu Y et al.

Translational Pediatrics, 2020

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

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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."