Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.S575R
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BTK

NM_000061.3:p.S575R

Associated Papers

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Carrillo-Tapia E et al.

Expert Review of Clinical Immunology, 2018

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

López-Granados E et al.

The Journal of Allergy and Clinical Immunology, 2005

[Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients].

Plo Rodríguez F et al.

Anales Espanoles De Pediatria, 1999

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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."