Varaico: Literature-Extracted Genetic Variants

Gene:PRKDC
Variant:p.L3061R
Back to variants list

PRKDC

NM_006904.7:p.L3061R

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Esenboga S et al.

Clinical Immunology (orlando, Fla.), 2018

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."