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
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
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
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
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 MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Dai J et al.
Journal of Dermatological Science, 2013
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ et al.
Nature Genetics, 2012
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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