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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Among authors: desbois m. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
Ubiquitin ligase and signalling hub MYCBP2 is required for efficient EPHB2 tyrosine kinase receptor function.
Chang C, Banerjee SL, Park SS, Zhang X, Cotnoir-White D, Opperman KJ, Desbois M, Grill B, Kania A. Chang C, et al. Among authors: desbois m. bioRxiv [Preprint]. 2023 Oct 28:2023.06.12.544638. doi: 10.1101/2023.06.12.544638. bioRxiv. 2023. Update in: Elife. 2024 Jan 30;12:RP89176. doi: 10.7554/eLife.89176 PMID: 37693478 Free PMC article. Updated. Preprint.
33 results