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A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

Boxun Zhao, Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao, Harrison Brand, Michael E. Talkowski, Eunjung Alice Lee, Pankaj B. Agrawal

2022European Journal of Human Genetics18 citationsDOIOpen Access PDF

Topics & Concepts

BiologyExonGeneticsTransposable elementIntronGeneRNA splicingRetrotransposonRNAMolecular biologyGenomeCongenital limb and hand anomaliesGenomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene | Litcius