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Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.
Shaik NA, Al-Shehri N, Athar M, Awan A, Khalili M, Al Mahadi HB, Hejazy G, Saadah OI, Al-Harthi SE, Elango R, Banaganapalli B, Alefishat E, Awan Z. Shaik NA, et al. Among authors: al mahadi hb. Front Physiol. 2023 Jul 4;14:1204018. doi: 10.3389/fphys.2023.1204018. eCollection 2023. Front Physiol. 2023. PMID: 37469559 Free PMC article.