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A novel de novo frameshift variant in SETD1B causes epilepsy.
J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20.
J Hum Genet. 2019.
PMID: 31110234
Review.
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.
Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.
Lei M, et al.
J Hum Genet. 2019 Jul;64(7):647-652. doi: 10.1038/s10038-019-0596-2. Epub 2019 Apr 15.
J Hum Genet. 2019.
PMID: 30988409
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