Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E174fs
Back to variants list

RAG1

NM_000448.3:p.E174fs

Associated Papers

Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells.

Sorel N et al.

Biomedicines, 2024

Omenn Syndrome due to RAG1 Mutation Presenting With Nonimmune Hydrops Fetalis in Two Siblings.

Valeri L et al.

Pediatrics, 2022

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Cifaldi C et al.

Journal of Clinical Immunology, 2022

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

Kalina T et al.

Frontiers in Immunology, 2020

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."