Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Bryn S MooreJonathan Z LuoAnn N StepanchickTooraj MirshahiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Our comprehensive assessment of all MC1R variants in a large cohort clearly establish that individuals with some missense variants are more susceptible to severe skin disorders than those with MC1R deletions or nonsense variants.