Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R544S
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BTK

NM_000061.3:p.R544S

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model.

Pérez de Diego R et al.

Clinical and Experimental Immunology, 2008

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

Molecular analysis of Bruton's tyrosine kinase gene in Spain.

Rodríguez MC et al.

Human Mutation, 2001

[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."