Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L348fs
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MVK

NM_000431.4:p.L348fs

Associated Papers

Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.

Li L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G et al.

Journal of Clinical Medicine, 2021

33917151 (PubMed )
Supplement: jcm-10-01552-s001.zip › TableS1_Distribution-variants_Revised.xlsx › Feuil2

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

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.

Li C et al.

Journal of Dermatological Science, 2014

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."