Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S923insFs
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FLG

NM_002016.2:p.S923insFs

Associated Papers

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.

Khan N et al.

International 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

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Sinclair C et al.

The British Journal of Dermatology, 2009

Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis.

Polcari I et al.

Pediatric Dermatology, 0

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