Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental …

B Xiao, W Dai, Y Zhan, W Qiu, H Zhang, DP Liu… - Genetics in …, 2024 - Elsevier
Purpose: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental
29 disorder (PURA-NDD), characterized by neonatal abnormalities and developmental …
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Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental …

B Xiao, W Dai, Y Zhan, W Qiu, H Zhang… - Genetics in medicine … - pubmed.ncbi.nlm.nih.gov
Purpose Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental
disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay …

Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental …

B Xiao, W Dai, Y Zhan, W Qiu, H Zhang, DP Liu, N Xu… - Genetics in Medicine - gimjournal.org
Purpose: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental
29 disorder (PURA-NDD), characterized by neonatal abnormalities and developmental …

Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental …

B Xiao, W Dai, Y Zhan, W Qiu, H Zhang… - Genetics in Medicine …, 2024 - europepmc.org
Purpose Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental
disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay …