Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.K1424delFs
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FLG

NM_002016.2:p.K1424delFs

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

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

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Saat H et al.

Medeniyet Medical Journal, 2022

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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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."