Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S1919_Q1920delFs
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FLG

NM_002016.2:p.S1919_Q1920delFs

Associated Papers

Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.

Liu C et al.

The Journal of Investigative 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

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s005.xlsx › Sheet2
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