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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364.
Brain. 2023.
PMID: 36200388
Free PMC article.
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Maroilley T, Wright NAM, Diao C, MacLaren L, Pfeffer G, Sarna JR, Billie Au PY, Tarailo-Graovac M.
Maroilley T, et al. Among authors: billie au py.
Front Genet. 2022 Jan 25;13:815210. doi: 10.3389/fgene.2022.815210. eCollection 2022.
Front Genet. 2022.
PMID: 35145552
Free PMC article.
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