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Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2.
Littleton SH, Trang KB, Volpe CM, Cook K, DeBruyne N, Maguire JA, Weidekamp MA, Hodge KM, Boehm K, Lu S, Chesi A, Bradfield JP, Pippin JA, Anderson SA, Wells AD, Pahl MC, Grant SFA. Littleton SH, et al. Among authors: volpe cm. Cell Genom. 2024 May 8;4(5):100556. doi: 10.1016/j.xgen.2024.100556. Epub 2024 May 1. Cell Genom. 2024. PMID: 38697123 Free article.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: volpe c. Neurogenetics. 2024 Mar 18. doi: 10.1007/s10048-024-00754-y. Online ahead of print. Neurogenetics. 2024. PMID: 38498292
174 results