A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature

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Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML

European Journal of Medical Genetics - (-) - [2018-08-00; online 2018-08-00]

Bioinformatics Compute and Storage [Service]

Clinical Genomics Uppsala [Collaborative]

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PubMed 30125677

DOI 10.1016/j.ejmg.2018.08.007

Crossref 10.1016/j.ejmg.2018.08.007