Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.Y1875*
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DOCK8

NM_203447.4:p.Y1875*

Associated Papers

[Combined immunodeficiency due to DOCK8 deficiency. State of the art].

Liquidano-Pérez E et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2022

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Lashkari HP et al.

Indian Journal of Pediatrics, 2022

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.

Jacob M et al.

Metabolites, 2019

31718082 (PubMed )
Supplement: metabolites-09-00274-s001.pdf

Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.

Jacob M et al.

Allergy, 2019

DOCK8 deficiency: Insights into pathophysiology, clinical features and management.

Biggs CM et al.

Clinical Immunology (orlando, Fla.), 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

Alsum Z et al.

Journal of Clinical Immunology, 2013

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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."