Associated Papers
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
Five years follow-up of a patient with porokeratosis ptychotropica and MVK gene mutation.
Badea MA et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2024
Structure, substrate recognition and reactivity of Leishmania major mevalonate kinase.
Sgraja T et al.
Bmc Structural Biology, 2007
Identification of catalytic residues in human mevalonate kinase.
Potter D et al.
The Journal of Biological Chemistry, 1997
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