Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
Genet Med. 2024 May 17:101167. doi: 10.1016/j.gim.2024.101167. Online ahead of print. ABSTRACT PURPOSE: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental disorder (PURA-NDD), …