Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.E567Q
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BTK

NM_000061.3:p.E567Q

Associated Papers

BTK acts as a modulator of the response to imatinib in chronic myeloid leukemia.

Schmidlechner L et al.

Oncology Letters, 2024

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

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

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

Chen XF et al.

Medicine, 2016

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.

Pons T et al.

Bmc Genomics, 2016

27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1

wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.

Vazquez M et al.

Human Mutation, 2016

26443060 (PubMed )
Supplement: supplement_1.pdf

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Väliaho J et al.

Human Mutation, 2015

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

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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."