Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.W124C
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BTK

NM_000061.3:p.W124C

Associated Papers

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

Grodecká L et al.

Clinical Immunology (orlando, Fla.), 2017

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

Havlicekova Z et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2014

BTKbase: the mutation database for X-linked agammaglobulinemia.

Väliaho J et al.

Human Mutation, 2006

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Fiorini M et al.

Human Mutation, 2004

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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."