Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.E27*
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PMVK

NM_006556.4:p.E27*

Associated Papers

The evolving genetic landscape of ILVEN: A comprehensive review.

Aghajani M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Atzmony L et al.

Pediatric Dermatology, 2022

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

Atzmony L et al.

Journal of the American Academy of Dermatology, 2020

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

Atzmony L et al.

Jama Dermatology, 2019

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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."