Varaico: Literature-Extracted Genetic Variants

Gene:MVD
Variant:p.N292S
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MVD

NM_002461.3:p.N292S

Associated Papers

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

Yang Y et al.

The British Journal of Dermatology, 2026

Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.

He Y et al.

Frontiers in Medicine, 2026

Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.

Zhang Q et al.

Heliyon, 2024

38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

Wang X et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.

Yu T et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.

Leng Y et al.

The Journal of Dermatology, 2018

Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders.

Chokoeva AA et al.

Open Access Macedonian Journal of Medical Sciences, 2018

[Analysis of clinical and genetic features of nine patients with disseminated superfacial actinic porokeratosis].

Li X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.

Li M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 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."