Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.M1T
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BTK

NM_000061.3:p.M1T

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

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L et al.

Journal of Clinical Immunology, 2019

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

[Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases].

Wang JC et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

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

Chen XF et al.

Medicine, 2016

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

Compensatory signals associated with the activation of human GC 5' splice sites.

Kralovicova J et al.

Nucleic Acids Research, 2011

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

Shen B et al.

Protein Engineering, Design & Selection : Peds, 2004

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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."