A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.
Asia ParveenMuhammad Usman MirzaMichiel VanmeertJaved AkhtarHina BashirSaadullah KhanSaqib ShehzadMatheus FroeyenWasim AhmadMuhammad AnsarNaveed WasifPublished in: Molecular genetics & genomic medicine (2019)
The novel identified variant in CNNM4 is the first report from the Pakistani population. Overall, the study is valuable and may give a novel insight into metal transport in visual function and biomineralization.