Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.K218delFs
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BTK

NM_000061.3:p.K218delFs

Associated Papers

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.

Perez-Olais JH et al.

Journal of Personalized Medicine, 2025

40863427 (PubMed )
Supplement: jpm-15-00365-s001.zip › jpm-3708733-supplementary.pdf

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

Gastrointestinal Manifestations in X-linked Agammaglobulinemia.

Barmettler S et al.

Journal of Clinical Immunology, 2017

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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."