Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.A230V
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BTK

NM_000061.3:p.A230V

Associated Papers

Novel EPHB4 Receptor Tyrosine Kinase Mutations and Kinomic Pathway Analysis in Lung Cancer.

Ferguson BD et al.

Scientific Reports, 2015

Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.

Abbott JK et al.

The Journal of Allergy and Clinical Immunology, 2013

TEC family kinases in health and disease--loss-of-function of BTK and ITK and the gain-of-function fusions ITK-SYK and BTK-SYK.

Hussain A et al.

The Febs Journal, 2011

Primary B cell immunodeficiencies: comparisons and contrasts.

Conley ME et al.

Annual Review of Immunology, 2009

What does it take to call it a pathogenic mutation?

Fleisher TA et al.

Clinical Immunology (orlando, Fla.), 2008

Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.

Pérez de Diego R et al.

Molecular Immunology, 2008

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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."