Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R711_Q713insFs
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FLG

NM_002016.2:p.R711_Q713insFs

Associated Papers

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.

Bar O et al.

International Journal of Molecular Sciences, 2024

38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S2

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
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