Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R3409*
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FLG

NM_002016.2:p.R3409*

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Paul AA et al.

Frontiers in Molecular Biosciences, 2023

37200867 (PubMed )
Supplement: Table1.DOCX

Phenotypes, endotypes and genotypes of atopic dermatitis and allergy in populations of African ancestry on the continent and diaspora.

Lunjani N et al.

Frontiers in Allergy, 2023

The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic Dermatitis.

van Mierlo MMF et al.

Dermatology (basel, Switzerland), 2022

35042220 (PubMed )
Supplement: drm-0238-0928-s01.pdf

Filaggrin sequencing and bioinformatics tools.

Margolis DJ et al.

Archives of Dermatological Research, 2020

Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans.

Margolis DJ et al.

The Journal of Investigative Dermatology, 2018

Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis.

Margolis DJ et al.

The Journal of Investigative Dermatology, 2014

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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."