Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.W251*
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BTK

NM_000061.3:p.W251*

Associated Papers

Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia.

Dai B et al.

Bmc Infectious Diseases, 2024

Helicobacter trogontum Bacteremia and Lower Limb Skin Lesion in a Patient with X-Linked Agammaglobulinemia-A Case Report and Review of the Literature.

Fjordside L et al.

Pathogens (basel, Switzerland), 2022

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

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

Collins CJ et al.

Frontiers in Immunology, 2018

Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia.

Sugimoto M et al.

Acta Dermato-venereologica, 2017

Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS.

Kerfoot SA et al.

Proteomics. Clinical Applications, 2012

Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

Lee PP et al.

Journal of Clinical Immunology, 2010

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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."