Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.S553delFs
Back to variants list

BTK

NM_000061.3:p.S553delFs

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

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.

Segundo GRS et al.

Frontiers in Immunology, 2018

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."