Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees…·Ernest Turro
The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.
3 citationstop 1%