Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q1590*
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FLG

NM_002016.2:p.Q1590*

Associated Papers

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Fioretti T et al.

Biomedicines, 2024

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.

Shearer Z et al.

Clinical Case Reports, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."