Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.W124R
Back to variants list

BTK

NM_000061.3:p.W124R

Associated Papers

Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.

Saheb Sharif-Askari N et al.

Journal of Clinical Immunology, 2023

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Chen XF et al.

Medicine, 2016

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Wang Y et al.

Journal of Clinical Immunology, 2009

[Gene diagnosis of X-linked agammaglobulinemia].

Wang XC et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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."