Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S2344*
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FLG

NM_002016.2:p.S2344*

Associated Papers

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

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.

Wong XFCC et al.

The Journal of Allergy and Clinical Immunology, 2018

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.

Srinivas SM et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.

Somasundaram A et al.

Indian Dermatology Online Journal, 0

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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."