A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype
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DOI: 10.1002/mgg3.2037
Abstract: Deletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a… read more here.
Keywords: jarid2; novo duplication; partial novo; duplication jarid2 ... See more keywords