Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.L111P
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BTK

NM_000061.3:p.L111P

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

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 and mutational features of X-linked agammaglobulinemia in Mexico.

García-García E et al.

Clinical Immunology (orlando, Fla.), 2016

Bruton's tyrosine kinase--an integral protein of B cell development that also has an essential role in the innate immune system.

López-Herrera G et al.

Journal of Leukocyte Biology, 2014

Consequences of two naturally occurring missense mutations in the structure and function of Bruton agammaglobulinemia tyrosine kinase.

Vargas-Hernández A et al.

Iubmb Life, 2012

Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.

Lopez-Herrera G et al.

Molecular Immunology, 2008

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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."