Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.L69fs
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TNFRSF13B

NM_012452.3:p.L69fs

Associated Papers

Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.

Forghani I et al.

Genes, 2025

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.

Sanchez DA et al.

Frontiers in Immunology, 2023

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.

Tuteja S et al.

Journal of Pathology Informatics, 2022

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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."