Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.C527_L528delFs
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BTK

NM_000061.3:p.C527_L528delFs

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

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

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK et al.

Allergy, Asthma & Immunology Research, 2020

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

Rawat A et al.

Frontiers in Immunology, 2020

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

Woon ST et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

X-linked agammaglobulinemia presenting with secondary hemophagocytic syndrome: a case report.

Ozturk C et al.

Case Reports in Medicine, 2013

Filaggrin gene mutations are associated with independent atopic asthma in Chinese patients.

Li M et al.

Allergy, 2011

Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodegenerative disease.

Tuzankina I et al.

Allergy, 2011

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.

Ameratunga R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and 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."