We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of domin...
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs).
Author: Nature
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