Varaico: Literature-Extracted Genetic Variants

Gene:MVD
Variant:p.R228Q
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MVD

NM_002461.3:p.R228Q

Associated Papers

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

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

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."