Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R3657*
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FLG

NM_002016.2:p.R3657*

Associated Papers

Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis.

Bellinato F et al.

Archives of Dermatological Research, 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

Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.

Liu C et al.

The Journal of Investigative Dermatology, 2023

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

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Franceschi S et al.

Cancers, 2021

33922652 (PubMed )
Supplement: cancers-13-02044-s001.zip › Supplementary_Table_S3.xlsx › Supplementary_Table_S3
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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."