Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder - nature.com
health 2026/03/30 17:13:44

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder - nature.com

Source:Nature.com
Author:None

An analysis of rare disease cohorts from the UK, the USA, Italy and the Netherlands identifies a neurodevelopmental disorder caused by biallelic variants in RNU2-2. Individuals with this disorder have substantially reduced levels of U2-2 small nuclear RNA in …