Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.K143_E144Splc
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POFUT1

NM_015352.2:p.K143_E144Splc

Associated Papers

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

Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.

Chen Y et al.

The Journal of Dermatology, 2021

Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.

Wu J et al.

Annals of Dermatology, 2020

Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.

Frew JW et al.

The British Journal of Dermatology, 2019

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes.

Jfri AH et al.

Journal of Cutaneous Medicine and Surgery, 0

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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."