Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.F442insFs
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BTK

NM_000061.3:p.F442insFs

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

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

Rawat A et al.

Frontiers in Immunology, 2020

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia.

Rawat A et al.

F1000research, 2016

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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."