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Regulatory de novo mutations underlying intellectual disability.
De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Among authors: pradeepa mm. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM; Deciphering Developmental Disorders Study; Bickmore WA, Pradeepa MM, FitzPatrick DR. Olley G, et al. Among authors: pradeepa mm. Nat Genet. 2018 Mar;50(3):329-332. doi: 10.1038/s41588-018-0042-y. Epub 2018 Jan 29. Nat Genet. 2018. PMID: 29379197 Free PMC article.
24 results