Article

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype

2022-01-27

Abstract excerpt

<title>Abstract</title> <p>Deletions covering the entire or partial <italic>JARID2</italic> gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of <italic>JARID2</italic> have recently been shown to cause a clinically distinct neurodevelopmental syndrome phenotype. Here, we present a previously undescribed partial <italic>de novo</italic> duplication of the <italic>JARID2</italic>...

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Literature Corpus work: 4668d67f-2f29-572a-a667-eb9ceee0ac63
DOI: 10.21203/rs.3.rs-1299950/v1

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