Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.H984delFs
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FLG

NM_002016.2:p.H984delFs

Associated Papers

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

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.

Chen H et al.

The British Journal of Dermatology, 2011

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