Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.R278I
Back to variants list

XRCC4

NM_003401.5:p.R278I

Associated Papers

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.

Luo X et al.

Frontiers in Immunology, 2021

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

Sun B et al.

Orphanet Journal of Rare Diseases, 2020

Molecular and immunological characterization of DNA ligase IV deficiency.

Jiang J et al.

Clinical Immunology (orlando, Fla.), 2016

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."