Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G302del1
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BTK

NM_000061.3:p.G302del1

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

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 Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Rawat A et al.

Frontiers in Immunology, 2020

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

Mensa-Vilaró A et al.

The Journal of Allergy and Clinical Immunology, 2019

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

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E et al.

Pediatrics, 1998

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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."