Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q278*
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IKBKG

NM_001099857.5:p.Q278*

Associated Papers

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Pavone P et al.

Journal of Child Neurology, 2025

Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.

Steffann J et al.

American Journal of Medical Genetics. Part A, 2024

Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases.

Chen H et al.

Frontiers in Medicine, 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."