Varaico: Literature-Extracted Genetic Variants

Gene:LRRC32
Variant:p.R312C
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LRRC32

NM_001128922.2:p.R312C

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk.

Manz J et al.

The Journal of Investigative Dermatology, 2016

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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."