Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.Y39C
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BTK

NM_000061.3:p.Y39C

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

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Khoshnevisan R et al.

Immunogenetics, 2024

Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

Kanegane H et al.

The Journal of Allergy and Clinical Immunology, 2001

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.

Wang Y et al.

Human Mutation, 2001

[The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry].

Ishida F et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 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."