Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R307S
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BTK

NM_000061.3:p.R307S

Associated Papers

Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases.

Eis PS et al.

Frontiers in Neurology, 2025

40761639 (PubMed )
Supplement: Data_Sheet_1.pdf

Progressive multifocal leukoencephalopathy in a patient with X-linked agammaglobulinemia.

Teramoto T et al.

Scandinavian Journal of Infectious Diseases, 2003

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

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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."