Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R13*
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BTK

NM_000061.3:p.R13*

Associated Papers

TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.

Chakrobortty T et al.

Frontiers in Medicine, 2025

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Khoshnevisan R et al.

Immunogenetics, 2024

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

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

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Rawat A et al.

Frontiers in Immunology, 2020

Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China.

Xia Y et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2018

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

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in 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

[Detection of Bruton's tyrosine kinase gene mutations and clinical analysis of 6 patients with X-linked agammaglobulinemia].

Zhang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Wang Y et al.

Journal of Clinical Immunology, 2009

Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes.

Pérez de Diego R et al.

The Journal of Allergy and Clinical Immunology, 2006

[Gene diagnosis of X-linked agammaglobulinemia].

Wang XC et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

Tani SM et al.

Human Mutation, 2002

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

Vorechovský I et al.

Human Mutation, 1997

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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."