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Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E. Nair D, et al. Among authors: murali s. Am J Med Genet A. 2023 Oct;191(10):2508-2517. doi: 10.1002/ajmg.a.63320. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353954 Free PMC article.
International prevalence patterns of low eGFR in adults aged 18-60 without traditional risk factors from a population-based cross-sectional disadvantaged populations eGFR epidemiology (DEGREE) study.
Rutter CE, Njoroge M, Cooper P, Dorairaj P, Jha V, Kaur P, Mohan S, Tatapudi RR, Biggeri A, Rohloff P, Hathaway MH, Crampin A, Dhimal M, Poudyal A, Bernabe-Ortiz A, O'Callaghan-Gordo C, Chulasiri P, Gunawardena N, Ruwanpathirana T, Wickramasinghe SC, Senanayake S, Kitiyakara C, Gonzalez-Quiroz M, Cortés S, Jakobsson K, Correa-Rotter R, Glaser J, Singh A, Hamilton S, Nair D, Aragón A, Nitsch D, Robertson S, Caplin B, Pearce N; DEGREE Study Group. Rutter CE, et al. Kidney Int. 2024 Dec 19:S0085-2538(24)00910-4. doi: 10.1016/j.kint.2024.11.028. Online ahead of print. Kidney Int. 2024. PMID: 39708999 Free article.
646 results