Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.H254Y
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KDF1

NM_152365.3:p.H254Y

Associated Papers

Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Intarak N et al.

Oral Diseases, 2024

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.

Ziegler A et al.

The British Journal of Dermatology, 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."