Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R992_A993delFs
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FLG

NM_002016.2:p.R992_A993delFs

Associated Papers

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S2.xlsx › Supplementary_Table_S2.

Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.

Thomas BR et al.

The British Journal of 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

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

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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."