Varaico: Literature-Extracted Genetic Variants

Gene:CD3E
Variant:p.L58delFs
Back to variants list

CD3E

NM_000733.4:p.L58delFs

Associated Papers

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Kalina T et al.

Frontiers in Immunology, 2020

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.

Shahbazi Z et al.

Immunology Letters, 2019

AIRE expression controls the peripheral selection of autoreactive B cells.

Sng J et al.

Science Immunology, 2019

A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

Firtina S et al.

Immunogenetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."