Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.S117fs
Back to variants list

RAG1

NM_000448.3:p.S117fs

Associated Papers

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.

Chen X et al.

Frontiers in Immunology, 2024

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

John T et al.

Journal of Clinical Immunology, 2016

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

Matangkasombut P et al.

Blood, 2008

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."