Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.D433delFs
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FLG

NM_002016.2:p.D433delFs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

Berger SI et al.

Clinical Genetics, 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

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