Associated Papers
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.
Carreño-Hidalgo M et al.
American Journal of Medical Genetics. Part A, 2025
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
35528192 (PubMed )
Supplement: crc-21-0022-s05.xlsx › Fig3_pathway_variants
Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.
Aluri J et al.
Cells, 2021
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.
Andersen LL et al.
Genes and Immunity, 2019
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
Mørk N et al.
Genes and Immunity, 2015
Select a paper to view details