Christel Depienne
@christeldepienne.bsky.social
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
We analyzed 200 potentially functional spliceosomal snRNA genes in 26,911 individuals with rare disorders.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.
September 5, 2025 at 3:43 PM
We analyzed 200 potentially functional spliceosomal snRNA genes in 26,911 individuals with rare disorders.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.