Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q1256*
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FLG

NM_002016.2:p.Q1256*

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

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris.

Zhang X et al.

The British Journal of Dermatology, 2010

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