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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24.
J Med Genet. 2018.
PMID: 29574422
Free PMC article.
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El-Khateeb M, Ellard S, Flanagan SE, Ron D, Hattersley AT.
De Franco E, et al. Among authors: bich ngoc ct.
Diabetes. 2020 Mar;69(3):477-483. doi: 10.2337/db19-1029. Epub 2019 Dec 27.
Diabetes. 2020.
PMID: 31882561
Free PMC article.
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