Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.Y551H
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BTK

NM_000061.3:p.Y551H

Associated Papers

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

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

Sheikhbahaei S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

Molecular characterization of Bruton's tyrosine kinase deficiency in 12 Iranian patients with presumed X-linked agammaglobulinemia.

Nasseri S et al.

Journal of Investigational Allergology & Clinical Immunology, 2011

Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2008

Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.

Aghamohammadi A et al.

International Archives of Allergy and Immunology, 2006

Screening of the Bruton Tyrosine Kinase (BTK) Gene Mutations in 13 Iranian Patients with Presumed X-Linked Agammaglobulinemia.

Aghamohammadi A et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2004

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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."