Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.A123_R126Fs
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STX11

NM_003764.4:p.A123_R126Fs

Associated Papers

Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients.

Guan YQ et al.

Current Medical Science, 2021

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.

Elsink K et al.

European Journal of Human Genetics : Ejhg, 2021

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Elsink K et al.

Frontiers in Immunology, 2021

34992599 (PubMed )
Supplement: Table_3.xlsx › Blad1

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B et al.

Genome Medicine, 2015

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."